K130R (p.Lys130Arg) variant of HAVCR2 (Q8TDQ0)
K130R (p.Lys130Arg) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
K130R (p.Lys130Arg) variant details
- p.Lys130Arg
- ExAC rs772172803
- gnomAD rs772172803
- Missense
- Variant Prioritization Score for Impact Estimate 0.0641
- REVEL 0.06
- CADD 1.56
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)