D38G (p.Asp38Gly) variant of SDHAF2 (Q9NX18)
D38G (p.Asp38Gly) in SDHAF2 (Q9NX18) is a missense 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.
D38G (p.Asp38Gly) variant details
- p.Asp38Gly
- gnomAD 11-61437701-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.28
- MetaLR 0.34
- MetaSVM -0.55
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available