Y60H (p.Tyr60His) variant of RHO (Rhodopsin)
Y60H (p.Tyr60His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y60H (p.Tyr60His) variant details
- p.Tyr60His
- rs771007146
- ClinGen CA2607077
- ClinVar RCV000767357
- ClinVar RCV002533923
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.31
- CADD 24.30
- PolyPhen-2 0.92
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)