Y191D (p.Tyr191Asp) variant of RHO (Rhodopsin)
Y191D (p.Tyr191Asp) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
Y191D (p.Tyr191Asp) variant details
- p.Tyr191Asp
- rs1578280614
- ClinGen CA354499331
- ClinVar RCV001265199
- ClinVar RCV001370917
- Uncertain significance
- not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.96
- MetaLR 0.41
- MetaSVM 0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Uncertain significance (not provided; Retinitis pigmentosa 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)