R27R (p.Arg27Arg) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R27R (p.Arg27Arg) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R27R (p.Arg27Arg) variant details
- p.Arg27Arg
- gnomAD 14-61720427-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 13.90
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Literature evidence available