I117V (p.Ile117Val) variant of HAVCR2 (Q8TDQ0)
I117V (p.Ile117Val) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
I117V (p.Ile117Val) variant details
- p.Ile117Val
- ExAC rs773895230
- gnomAD rs773895230
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0919
- REVEL 0.03
- AlphaMissense 0.13
- MetaLR 0.02
- MetaSVM -1.02
- CADD 0.15
- PolyPhen-2 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)