A19V (p.Ala19Val) variant of SDHA (P31040)
A19V (p.Ala19Val) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 5-218411-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0996
- REVEL 0.06
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available