R32T (p.Arg32Thr) variant of SDHAF2 (Q9NX18)
R32T (p.Arg32Thr) 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 0.40 / 1. The record also includes population frequency data and structural context.
R32T (p.Arg32Thr) variant details
- p.Arg32Thr
- gnomAD rs1277577700
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.26
- AlphaMissense 0.13
- MetaLR 0.28
- MetaSVM -0.82
- CADD 14.00
- PolyPhen-2 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available