A71T (p.Ala71Thr) variant of ABCC4 (O15439)
A71T (p.Ala71Thr) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
A71T (p.Ala71Thr) variant details
- p.Ala71Thr
- cosmic curated COSV65312
- gnomAD rs1336286481
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 23.20
- PolyPhen-2 0.39
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.5e-05)