V6M (p.Val6Met) variant of SDHAF2 (Q9NX18)
V6M (p.Val6Met) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
V6M (p.Val6Met) variant details
- p.Val6Met
- TOPMed rs1337661888
- gnomAD rs1337661888
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.16
- MetaLR 0.36
- MetaSVM -0.88
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available