A13V (p.Ala13Val) variant of SDHA (P31040)
A13V (p.Ala13Val) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 5-218393-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.05
- CADD 5.66
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available