S43S (p.Ser43Ser) variant of SDHAF2 (Q9NX18)
S43S (p.Ser43Ser) in SDHAF2 (Q9NX18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S43S (p.Ser43Ser) variant details
- p.Ser43Ser
- gnomAD 11-61437717-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 9.67
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available