D74E (p.Asp74Glu) variant of HAVCR2 (Q8TDQ0)
D74E (p.Asp74Glu) in HAVCR2 (Q8TDQ0) 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 0.03 / 1. The record also includes population frequency data.
D74E (p.Asp74Glu) variant details
- p.Asp74Glu
- ESP rs372130478
- ExAC rs372130478
- TOPMed rs372130478
- gnomAD rs372130478
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.026
- REVEL 0.00
- CADD 0.14
- PolyPhen-2 0.02
- SIFT 0.32
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)