E49A (p.Glu49Ala) variant of SDHAF2 (Q9NX18)
E49A (p.Glu49Ala) in SDHAF2 (Q9NX18) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E49A (p.Glu49Ala) variant details
- p.Glu49Ala
- TOPMed rs1295134579
- gnomAD rs1295134579
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.40
- MetaLR 0.35
- MetaSVM -0.34
- CADD 28.10
- PolyPhen-2 0.06
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available