A21A (p.Ala21Ala) variant of SDHA (P31040)
A21A (p.Ala21Ala) in SDHA (P31040) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A21A (p.Ala21Ala) variant details
- p.Ala21Ala
- rs587781942
- gnomAD 5-218418-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available