F123C (p.Phe123Cys) variant of HAVCR2 (Q8TDQ0)
F123C (p.Phe123Cys) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
F123C (p.Phe123Cys) variant details
- p.Phe123Cys
- cosmic curated COSV57153
- ESP rs372728833
- ExAC rs372728833
- gnomAD rs372728833
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.22
- CADD 8.83
- PolyPhen-2 0.46
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.6e-05)