I13V (p.Ile13Val) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
I13V (p.Ile13Val) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. Clinical records from ClinVar 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 0.25 / 1. The record also includes population frequency data and structural context.
I13V (p.Ile13Val) variant details
- p.Ile13Val
- TOPMed rs2044412573
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.09
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.015)
- Structural context available