I107F (p.Ile107Phe) variant of HAVCR2 (Q8TDQ0)
I107F (p.Ile107Phe) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
I107F (p.Ile107Phe) variant details
- p.Ile107Phe
- rs190484372
- ClinGen CA3531960
- ClinVar RCV003941489
- ClinVar RCV005407288
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.07
- CADD 16.50
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PUR population (allele frequency 0.01)