L11P (p.Leu11Pro) variant of SDHA (P31040)
L11P (p.Leu11Pro) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- gnomAD 5-218387-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.32
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.1e-05)
- Structural context available
- Literature evidence available