A6V (p.Ala6Val) variant of SDHB (P21912)
A6V (p.Ala6Val) in SDHB (P21912) 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 0.33 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD rs1249560928
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.36
- CADD 7.09
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available