P25H (p.Pro25His) variant of VHL (P40337)
P25H (p.Pro25His) in VHL (P40337) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in PCC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P25H (p.Pro25His) variant details
- p.Pro25His
- 1000Genomes rs35460768
- ESP rs35460768
- ExAC rs35460768
- TOPMed rs35460768
- Benign
- in PCC
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.27
- MetaLR 0.46
- MetaSVM -0.53
- CADD 17.70
- PolyPhen-2 0.44
- SIFT 0.00
- EBI: Benign (in PCC)
- UniProt: Benign (in PCC)
- Population evidence available
- Structural context available