A41V (p.Ala41Val) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A41V (p.Ala41Val) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- TOPMed rs1008529581
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.43
- CADD 26.30
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available