L188V (p.Leu188Val) variant of VHL (P40337)
L188V (p.Leu188Val) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L188V (p.Leu188Val) variant details
- p.Leu188Val
- rs5030824
- ClinGen CA020488
- cosmic curated COSV56563
- ClinVar RCV000002311
- Uncertain significance
- Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.80
- MetaLR 0.99
- MetaSVM 1.03
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in ECYT2, PCC and VHLD)
- UniProt: Pathogenic (in ECYT2, PCC and VHLD)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Mutations in the VHL gene in sporadic apparently congenital polycythemia. (PMID 12393546)