Y43C (p.Tyr43Cys) variant of CHM (P24386)
Y43C (p.Tyr43Cys) in CHM (P24386) 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 0.77 / 1. The record also includes population frequency data and structural context.
Y43C (p.Tyr43Cys) variant details
- p.Tyr43Cys
- rs141561651
- ClinGen CA10465636
- ClinVar RCV002654875
- ESP rs141561651
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.88
- MetaLR 0.89
- MetaSVM 0.97
- CADD 26.20
- PolyPhen-2 0.99
- 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 4e-05)
- Structural context available