A22D (p.Ala22Asp) variant of ABCC6 (O95255)
A22D (p.Ala22Asp) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A22D (p.Ala22Asp) variant details
- p.Ala22Asp
- Ensembl rs1567551434
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.06
- CADD 7.78
- PolyPhen-2 0.10
- SIFT 0.22
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available