Table 2.

Ensembl and dbSNP Report Three Nonsynonymous SNPs as Rare Normal Variants within the Coding Region of the PRPF31 Gene, these being Predicted to be Pathogenic by both Sift and Polyphen. This Raises the Issue that these Rare Changes might be Pathogenic on a Different Genetic Background

SNP	Exon	Change	Sift	Polyphen	Heterozygote frequency
rs150280707	6	p.Val169Ile	0.1	0.946	<0.0001
rs119475042	7	p.Ala216Thr	0	1	<0.0001
rs151337240	13	p.Ala453Asp	0	0.999	0.001