L12L (p.Leu12Leu) variant of SDHAF2 (Q9NX18)
L12L (p.Leu12Leu) in SDHAF2 (Q9NX18) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- gnomAD 11-61430182-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 24.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available