A11D (p.Ala11Asp) variant of VHL (P40337)
A11D (p.Ala11Asp) in VHL (P40337) 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 0.40 / 1. The record also includes population frequency data and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- Ensembl rs2125124474
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.31
- MetaLR 0.41
- MetaSVM -0.53
- CADD 18.10
- PolyPhen-2 0.29
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available