P110A (p.Pro110Ala) variant of ABCC4 (O15439)
P110A (p.Pro110Ala) 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.
P110A (p.Pro110Ala) variant details
- p.Pro110Ala
- Ensembl rs2039719784
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 24.80
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)