D104G (p.Asp104Gly) variant of HAVCR2 (Q8TDQ0)
D104G (p.Asp104Gly) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
D104G (p.Asp104Gly) variant details
- p.Asp104Gly
- gnomAD rs1478141906
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.82
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)