I32V (p.Ile32Val) variant of PRPH2 (Peripherin-2)
I32V (p.Ile32Val) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of PRPH2-related disorder; Retinitis pigmentosa 7; Pigmentary retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- rs61755767
- ClinGen CA226333
- ClinVar RCV000085036
- ClinVar RCV001250380
- Conflicting interpretations
- PRPH2-related disorder; Retinitis pigmentosa 7; Pigmentary retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.36
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.69
- ClinVar: Conflicting classifications of pathogenicity (PRPH2-related disorder; Retinitis pigmentosa 7; Pigmentary retin)
- EBI: Benign (in some patients with macular dystrophy)
- UniProt: Benign (in some patients with macular dystrophy)
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. (PMID 8956033)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)