A32P (p.Ala32Pro) variant of RHO (Rhodopsin)
A32P (p.Ala32Pro) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- rs2084756721
- ClinGen CA354495674
- ClinVar RCV001075054
- Ensembl rs2084756721
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.53
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available