V3M (p.Val3Met) variant of SDHAF2 (Q9NX18)
V3M (p.Val3Met) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- rs149277592
- ClinGen CA380680112
- cosmic curated COSV57099
- ClinVar RCV000572705
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.07
- MetaLR 0.28
- MetaSVM -0.89
- CADD 14.70
- PolyPhen-2 0.08
- SIFT 0.35
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)