A2V (p.Ala2Val) variant of DPYD (Q12882)
A2V (p.Ala2Val) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs1674487160
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.40
- MetaLR 0.49
- MetaSVM -0.27
- CADD 24.40
- PolyPhen-2 0.17
- SIFT 0.01
- Population evidence available
- Structural context available