A21R (p.Ala21Arg) variant of SDHA (P31040)
A21R (p.Ala21Arg) in SDHA (P31040) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A21R (p.Ala21Arg) variant details
- p.Ala21Arg
- gnomAD 5-218414-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 19.80
- Population evidence available
- Structural context available
- Literature evidence available