A71D (p.Ala71Asp) variant of ABCC6 (O95255)
A71D (p.Ala71Asp) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A71D (p.Ala71Asp) variant details
- p.Ala71Asp
- ExAC rs779991699
- gnomAD rs779991699
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.25
- CADD 24.00
- PolyPhen-2 0.47
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available