S4L (p.Ser4Leu) variant of SDHAF2 (Q9NX18)
S4L (p.Ser4Leu) in SDHAF2 (Q9NX18) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- gnomAD 11-61430152-GGTGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.10
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available