A292V (p.Ala292Val) variant of RHO (Rhodopsin)
A292V (p.Ala292Val) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
A292V (p.Ala292Val) variant details
- p.Ala292Val
- rs104893789
- ClinGen CA354470722
- ClinVar RCV002035588
- ClinVar RCV005868528
- Uncertain significance
- Retinitis pigmentosa 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.89
- MetaLR 0.14
- MetaSVM -0.72
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.48
- ClinVar: Uncertain significance (Retinitis pigmentosa 4; not provided)
- EBI: Pathogenic (in CSNBAD1)
- UniProt: Pathogenic (in CSNBAD1)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)