S12T (p.Ser12Thr) variant of SDHA (P31040)
S12T (p.Ser12Thr) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S12T (p.Ser12Thr) variant details
- p.Ser12Thr
- gnomAD 5-218390-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.06
- CADD 6.04
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available