N8T (p.Asn8Thr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N8T (p.Asn8Thr) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N8T (p.Asn8Thr) variant details
- p.Asn8Thr
- rs2044134416
- gnomAD 14-61697879-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 4.45
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available