A90V (p.Ala90Val) variant of ABCC6 (O95255)
A90V (p.Ala90Val) in ABCC6 (O95255) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- gnomAD rs1339125190
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.06
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available