P25L (p.Pro25Leu) variant of VHL (P40337)
P25L (p.Pro25Leu) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs35460768
- Civic 850
- ClinGen CA020538
- cosmic curated COSV56547
- Benign
- Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.15
- MetaLR 0.35
- MetaSVM -0.68
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Benign (Von Hippel-Lindau syndrome)
- EBI: Benign (in PCC)
- UniProt: Benign (in PCC)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. (PMID 14500403)
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)