G3V (p.Gly3Val) variant of SDHA (P31040)
G3V (p.Gly3Val) in SDHA (P31040) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.10
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.5e-05)
- Structural context available