T145A (p.Thr145Ala) variant of ABCC4 (O15439)
T145A (p.Thr145Ala) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
T145A (p.Thr145Ala) variant details
- p.Thr145Ala
- gnomAD rs1416455412
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 13.00
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)