I117L (p.Ile117Leu) variant of HAVCR2 (Q8TDQ0)
I117L (p.Ile117Leu) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1.
I117L (p.Ile117Leu) variant details
- p.Ile117Leu
- rs773895230
- ClinGen CA361954163
- ClinVar RCV004120945
- ClinVar RCV004790420
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- AlphaMissense 0.13
- MetaLR 0.02
- MetaSVM -1.02
- PolyPhen-2 0.09
- SIFT 0.19
- MutPred 0.57
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign