D24N (p.Asp24Asn) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
D24N (p.Asp24Asn) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. 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.
D24N (p.Asp24Asn) variant details
- p.Asp24Asn
- gnomAD rs1323460722
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.27
- CADD 25.10
- PolyPhen-2 0.23
- SIFT 0.05
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available