D9del (p.Asp9del) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
D9del (p.Asp9del) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D9del (p.Asp9del) variant details
- rs1306188430
- gnomAD 14-61695826-AACG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 21.20
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available