Y43F (p.Tyr43Phe) variant of CHM (P24386)
Y43F (p.Tyr43Phe) in CHM (P24386) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y43F (p.Tyr43Phe) variant details
- p.Tyr43Phe
- ESP rs141561651
- ExAC rs141561651
- gnomAD rs141561651
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.85
- MetaLR 0.87
- MetaSVM 0.93
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available