E98D (p.Glu98Asp) variant of HAVCR2 (Q8TDQ0)
E98D (p.Glu98Asp) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
E98D (p.Glu98Asp) variant details
- p.Glu98Asp
- gnomAD rs1757257160
- NCI-TCGA Cosmic COSV5715
- cosmic curated COSV57152
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.05
- CADD 5.99
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)