E17del (p.Glu17del) variant of HIF1A (Hypoxia-inducible factor 1-alpha)

Name: HIF1A E17del (p.Glu17del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-07-30
License: https://catvariant.com/terms-of-use

E17del (p.Glu17del) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.

E17del (p.Glu17del) variant details

gnomAD 14-61697896-AAAG-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.227
CADD 11.90
Most common in the African/African-American population (allele frequency 0.00019)
Structural context available
Literature evidence available