N47K (p.Asn47Lys) variant of HAVCR2 (Q8TDQ0)
N47K (p.Asn47Lys) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
N47K (p.Asn47Lys) variant details
- p.Asn47Lys
- ExAC rs776185551
- TOPMed rs776185551
- gnomAD rs776185551
- Missense
- Variant Prioritization Score for Impact Estimate 0.0955
- REVEL 0.12
- CADD 0.37
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)