D120N (p.Asp120Asn) variant of HAVCR2 (Q8TDQ0)
D120N (p.Asp120Asn) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
D120N (p.Asp120Asn) variant details
- p.Asp120Asn
- 1000Genomes rs201054625
- ESP rs201054625
- ExAC rs201054625
- TOPMed rs201054625
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.34
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)