A78S (p.Ala78Ser) variant of PRPH2 (Peripherin-2)
A78S (p.Ala78Ser) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- gnomAD rs1320649695
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.41
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available