Y82C (p.Tyr82Cys) variant of HAVCR2 (Q8TDQ0)
Y82C (p.Tyr82Cys) 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 T-cell lymphoma (SPTCL); Subcutaneous panniculitis-lik. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
Y82C (p.Tyr82Cys) variant details
- p.Tyr82Cys
- rs184868814
- ClinGen CA3531978
- cosmic curated COSV57153
- ClinVar RCV000768411
- Conflicting interpretations
- Subcutaneous panniculitis T-cell lymphoma (SPTCL); Subcutaneous panniculitis-lik
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.67
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Subcutaneous panniculitis T-cell lymphoma (SPTCL); Subcutaneous)
- EBI: Pathogenic (in SPTCL)
- UniProt: Pathogenic (in SPTCL)
- Most common in the HGDP:TUJIA population (allele frequency 0.1)
- 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)