V81A (p.Val81Ala) variant of ABCC6 (O95255)
V81A (p.Val81Ala) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V81A (p.Val81Ala) variant details
- p.Val81Ala
- gnomAD rs1211998073
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available