T101I (p.Thr101Ile) variant of HAVCR2 (Q8TDQ0)
T101I (p.Thr101Ile) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
T101I (p.Thr101Ile) variant details
- p.Thr101Ile
- rs147827860
- ClinGen CA3531965
- cosmic curated COSV57153
- ClinVar RCV000768413
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.28
- CADD 22.60
- PolyPhen-2 0.78
- SIFT 0.03
- ClinVar: Benign (not provided)
- EBI: Benign (in SPTCL)
- UniProt: Benign (in SPTCL)
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Cited in: Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma. (PMID 30792187)
- Cited in: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with… (PMID 30374066)