A34V (p.Ala34Val) variant of SDHB (P21912)
A34V (p.Ala34Val) in SDHB (P21912) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- TOPMed rs867908217
- gnomAD rs867908217
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.41
- AlphaMissense 0.11
- MetaLR 0.86
- MetaSVM 0.65
- CADD 16.90
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available