E49del (p.Glu49del) variant of SDHAF2 (Q9NX18)
E49del (p.Glu49del) in SDHAF2 (Q9NX18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E49del (p.Glu49del) variant details
- rs749431351
- gnomAD 11-61437732-TGAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available