S57N (p.Ser57Asn) variant of PRPH2 (Peripherin-2)
S57N (p.Ser57Asn) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S57N (p.Ser57Asn) variant details
- p.Ser57Asn
- gnomAD rs1165541913
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.46
- CADD 24.10
- PolyPhen-2 0.74
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available