E72K (p.Glu72Lys) variant of HAVCR2 (Q8TDQ0)
E72K (p.Glu72Lys) 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 0.22 / 1. The record also includes population frequency data.
E72K (p.Glu72Lys) variant details
- p.Glu72Lys
- rs747172640
- ExAC rs747172640
- TOPMed rs747172640
- gnomAD rs747172640
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.10
- CADD 11.80
- PolyPhen-2 0.12
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)