P110T (p.Pro110Thr) variant of ABCC4 (O15439)
P110T (p.Pro110Thr) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
P110T (p.Pro110Thr) variant details
- p.Pro110Thr
- Ensembl rs2039719784
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)