S10R (p.Ser10Arg) variant of SDHAF2 (Q9NX18)
S10R (p.Ser10Arg) in SDHAF2 (Q9NX18) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- rs1861838658
- gnomAD 11-61430172-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 19.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available