V113A (p.Val113Ala) variant of ABCC9 (O60706)
V113A (p.Val113Ala) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V113A (p.Val113Ala) variant details
- p.Val113Ala
- gnomAD rs1359197656
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.54
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.13
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available