Y43C (p.Tyr43Cys) variant of RHO (Rhodopsin)
Y43C (p.Tyr43Cys) 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 0.54 / 1. The record also includes population frequency data and structural context.
Y43C (p.Tyr43Cys) variant details
- p.Tyr43Cys
- rs748429090
- ClinGen CA2607066
- ClinVar RCV003818353
- ExAC rs748429090
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.53
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available