I97M (p.Ile97Met) variant of HAVCR2 (Q8TDQ0)
I97M (p.Ile97Met) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Subcutaneous panniculitis-like T-cell lymphoma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
I97M (p.Ile97Met) variant details
- p.Ile97Met
- rs35960726
- ClinGen CA3531967
- ClinVar RCV000768412
- ClinVar RCV001310880
- Conflicting interpretations
- Subcutaneous panniculitis-like T-cell lymphoma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.30
- CADD 18.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Subcutaneous panniculitis-like T-cell lymphoma; not provided)
- EBI: Pathogenic (in SPTCL)
- UniProt: Pathogenic (in SPTCL)
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Cited in: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with… (PMID 30374066)
- Cited in: Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell… (PMID 30429576)