V28M (p.Val28Met) variant of PRPH2 (Peripherin-2)
V28M (p.Val28Met) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRPH2-related disorder; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
V28M (p.Val28Met) variant details
- p.Val28Met
- rs1476970688
- ClinGen CA364138807
- ClinVar RCV002937975
- ClinVar RCV003889183
- Uncertain significance
- PRPH2-related disorder; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.59
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (PRPH2-related disorder; Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available