S10C (p.Ser10Cys) variant of SDHAF2 (Q9NX18)
S10C (p.Ser10Cys) in SDHAF2 (Q9NX18) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S10C (p.Ser10Cys) variant details
- p.Ser10Cys
- rs1339037960
- gnomAD 11-61430174-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 24.80
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available