L10M (p.Leu10Met) variant of SDHA (P31040)
L10M (p.Leu10Met) 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.
L10M (p.Leu10Met) variant details
- p.Leu10Met
- gnomAD 5-218383-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.24
- CADD 16.90
- PolyPhen-2 0.86
- SIFT 0.36
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available