S2W (p.Ser2Trp) variant of SDHA (P31040)
S2W (p.Ser2Trp) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S2W (p.Ser2Trp) variant details
- p.Ser2Trp
- gnomAD 5-218360-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.09
- CADD 23.80
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available