G116D (p.Gly116Asp) variant of HAVCR2 (Q8TDQ0)
G116D (p.Gly116Asp) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
G116D (p.Gly116Asp) variant details
- p.Gly116Asp
- ExAC rs759186529
- gnomAD rs759186529
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.40
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)