A28E (p.Ala28Glu) variant of HAVCR2 (Q8TDQ0)
A28E (p.Ala28Glu) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
A28E (p.Ala28Glu) variant details
- p.Ala28Glu
- 1000Genomes rs147605860
- ESP rs147605860
- ExAC rs147605860
- TOPMed rs147605860
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.24
- CADD 0.04
- PolyPhen-2 0.11
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)