A83T (p.Ala83Thr) variant of ABCC4 (O15439)
A83T (p.Ala83Thr) 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.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- ExAC rs747943559
- gnomAD rs747943559
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)