P25S (p.Pro25Ser) variant of VHL (P40337)
P25S (p.Pro25Ser) in VHL (P40337) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PCC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- cosmic curated COSV56571
- ExAC rs745338799
- TOPMed rs745338799
- gnomAD rs745338799
- Uncertain significance
- in PCC
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.12
- MetaLR 0.35
- MetaSVM -0.69
- CADD 14.10
- PolyPhen-2 0.03
- SIFT 0.16
- EBI: Variant of uncertain significance (in PCC)
- UniProt: Uncertain significance (in PCC)
- Population evidence available
- Structural context available