S20G (p.Ser20Gly) variant of SDHAF2 (Q9NX18)
S20G (p.Ser20Gly) in SDHAF2 (Q9NX18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- gnomAD 11-61437646-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.08
- MetaLR 0.27
- MetaSVM -0.90
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available