P25R (p.Pro25Arg) variant of VHL (P40337)
P25R (p.Pro25Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- 1000Genomes rs35460768
- ESP rs35460768
- ExAC rs35460768
- TOPMed rs35460768
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.28
- MetaLR 0.35
- MetaSVM -0.64
- CADD 13.00
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Benign (in PCC)
- UniProt: Benign (in PCC)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available