A15G (p.Ala15Gly) variant of SDHAF2 (Q9NX18)
A15G (p.Ala15Gly) in SDHAF2 (Q9NX18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- gnomAD 11-61437632-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.12
- MetaLR 0.28
- MetaSVM -0.89
- CADD 5.50
- PolyPhen-2 0.04
- SIFT 0.67
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available