K130E (p.Lys130Glu) variant of HAVCR2 (Q8TDQ0)
K130E (p.Lys130Glu) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
K130E (p.Lys130Glu) variant details
- p.Lys130Glu
- TOPMed rs1462397462
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.03
- CADD 19.20
- PolyPhen-2 0.07
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 6e-05)