F143C (p.Phe143Cys) variant of ABCC4 (O15439)
F143C (p.Phe143Cys) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
F143C (p.Phe143Cys) variant details
- p.Phe143Cys
- gnomAD rs1334112656
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 14.30
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the South Asian population (allele frequency 5.8e-05)