A11G (p.Ala11Gly) variant of VHL (P40337)
A11G (p.Ala11Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Nonpapillary renal cell carcinoma; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- Ensembl rs2125124474
- Uncertain significance
- Pheochromocytoma; Nonpapillary renal cell carcinoma; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.19
- MetaLR 0.35
- MetaSVM -0.59
- CADD 17.60
- PolyPhen-2 0.10
- SIFT 0.19
- ClinVar: Uncertain significance (Pheochromocytoma; Nonpapillary renal cell carcinoma; Chuvash pol)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available