L16P (p.Leu16Pro) variant of SDHA (P31040)
L16P (p.Leu16Pro) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- gnomAD 5-218402-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.18
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available