G54C (p.Gly54Cys) variant of HAVCR2 (Q8TDQ0)
G54C (p.Gly54Cys) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
G54C (p.Gly54Cys) variant details
- p.Gly54Cys
- gnomAD rs1228657999
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.46
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)