T28A (p.Thr28Ala) variant of SDHA (P31040)
T28A (p.Thr28Ala) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
T28A (p.Thr28Ala) variant details
- p.Thr28Ala
- gnomAD 5-223500-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0682
- REVEL 0.06
- CADD 1.13
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available