G46E (p.Gly46Glu) variant of HAVCR2 (Q8TDQ0)
G46E (p.Gly46Glu) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
G46E (p.Gly46Glu) variant details
- p.Gly46Glu
- cosmic curated COSV57154
- gnomAD rs1450374496
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.10
- CADD 2.95
- PolyPhen-2 0.01
- SIFT 0.75
- Most common in the South Asian population (allele frequency 5.8e-05)