Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Pathogenicity prediction of MT1E c.G107A (p.C36Y) mutation
| Number | Analysis tool | Mutation rate | Risk prediction | Score |
|---|---|---|---|---|
| 1 | 1000g_ALL | 0 | – | – |
| 2 | esp6500si_all | 0 | – | – |
| 3 | GnomAD_ALL_AF | 0.00004690 | – | – |
| 4 | dbscSNV_SCORE | – | – | None |
| 5 | Spidex | – | – | None |
| 6 | SIFT | – | Deleterious | 0 |
| 7 | Polyphen2_HVAR | – | Deleterious | 0.998 |
| 8 | Polyphen2_HDIV | – | Deleterious | 0.997 |
| 9 | MutationTaster | – | Deleterious | 1 |
| 10 | CADD | – | Deleterious | 27.3 |
