Y119C (p.Tyr119Cys) variant of ABCC4 (O15439)
Y119C (p.Tyr119Cys) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
Y119C (p.Tyr119Cys) variant details
- p.Tyr119Cys
- gnomAD rs1438216408
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 24.40
- PolyPhen-2 0.48
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)