S39R (p.Ser39Arg) variant of SDHAF2 (Q9NX18)
S39R (p.Ser39Arg) 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 0.35 / 1. The record also includes population frequency data and structural context.
S39R (p.Ser39Arg) variant details
- p.Ser39Arg
- ExAC rs780593356
- gnomAD rs780593356
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.33
- MetaLR 0.44
- MetaSVM -0.23
- CADD 23.30
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available