A17P (p.Ala17Pro) variant of SDHA (P31040)
A17P (p.Ala17Pro) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- gnomAD 5-218404-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.44
- CADD 22.30
- PolyPhen-2 0.16
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available