Y137C (p.Tyr137Cys) variant of ABCC4 (O15439)
Y137C (p.Tyr137Cys) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
Y137C (p.Tyr137Cys) variant details
- p.Tyr137Cys
- ExAC rs763252669
- TOPMed rs763252669
- gnomAD rs763252669
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 18.10
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the South Asian population (allele frequency 3.5e-05)