G54S (p.Gly54Ser) variant of HAVCR2 (Q8TDQ0)
G54S (p.Gly54Ser) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- gnomAD rs1228657999
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.44
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)