P78A (p.Pro78Ala) variant of ABCC4 (O15439)
P78A (p.Pro78Ala) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
P78A (p.Pro78Ala) variant details
- p.Pro78Ala
- rs11568689
- UniProt VAR 029121
- 1000Genomes rs11568689
- ExAC rs11568689
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 25.40
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the HGDP:LAHU population (allele frequency 0.1)