M1V (p.Met1Val) variant of PRPH2 (Peripherin-2)
M1V (p.Met1Val) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1761921867
- ClinGen CA364138987
- ClinVar RCV001202664
- ClinVar RCV003890347
- Conflicting interpretations
- Retinal dystrophy; PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- MetaLR 0.04
- MetaSVM -1.17
- SIFT 0.00
- MutPred 0.78
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; PRPH2-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available