A21G (p.Ala21Gly) variant of SDHA (P31040)
A21G (p.Ala21Gly) in SDHA (P31040) 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 0.14 / 1. The record also includes population frequency data and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- Ensembl rs2126522821
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.07
- CADD 13.90
- PolyPhen-2 0.02
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available