A13S (p.Ala13Ser) variant of SDHA (P31040)
A13S (p.Ala13Ser) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 5-218392-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0823
- REVEL 0.07
- CADD 3.99
- PolyPhen-2 0.00
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available