A44S (p.Ala44Ser) variant of HAVCR2 (Q8TDQ0)
A44S (p.Ala44Ser) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- ExAC rs765773071
- TOPMed rs765773071
- gnomAD rs765773071
- Missense
- Variant Prioritization Score for Impact Estimate 0.0382
- REVEL 0.02
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the REMAINING population (allele frequency 1.7e-05)