K130N (p.Lys130Asn) variant of HAVCR2 (Q8TDQ0)
K130N (p.Lys130Asn) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
K130N (p.Lys130Asn) variant details
- p.Lys130Asn
- TOPMed rs1206400189
- gnomAD rs1206400189
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.10
- CADD 24.00
- PolyPhen-2 0.72
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)