A2S (p.Ala2Ser) variant of PRPH2 (Peripherin-2)
A2S (p.Ala2Ser) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs1424831291
- ClinGen CA364138978
- ClinVar RCV001530269
- gnomAD rs1424831291
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- AlphaMissense 0.14
- MetaLR 0.03
- MetaSVM -1.14
- SIFT 0.01
- MutPred 0.32
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available