R111Q (p.Arg111Gln) variant of HAVCR2 (Q8TDQ0)
R111Q (p.Arg111Gln) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Subcutaneous panniculitis-like T-cell lymphoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
R111Q (p.Arg111Gln) variant details
- p.Arg111Gln
- rs367701067
- ClinGen CA3531956
- cosmic curated COSV10032
- ClinVar RCV001354547
- Uncertain significance
- Subcutaneous panniculitis-like T-cell lymphoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.41
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Subcutaneous panniculitis-like T-cell lymphoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)