I48V (p.Ile48Val) variant of SDHAF2 (Q9NX18)
I48V (p.Ile48Val) in SDHAF2 (Q9NX18) is a missense 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.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- gnomAD 11-61437730-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.19
- MetaLR 0.29
- MetaSVM -0.61
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available