V15L (p.Val15Leu) variant of FH (P07954)
V15L (p.Val15Leu) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V15L (p.Val15Leu) variant details
- p.Val15Leu
- rs1463008959
- ClinGen CA345442970
- ClinVar RCV003011414
- ClinVar RCV003377829
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.38
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)