C52F (p.Cys52Phe) variant of HAVCR2 (Q8TDQ0)
C52F (p.Cys52Phe) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
C52F (p.Cys52Phe) variant details
- p.Cys52Phe
- Ensembl rs1561624547
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.55
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)