S12I (p.Ser12Ile) variant of SDHA (P31040)
S12I (p.Ser12Ile) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- gnomAD 5-218390-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.09
- CADD 8.28
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available