T101P (p.Thr101Pro) variant of HAVCR2 (Q8TDQ0)
T101P (p.Thr101Pro) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in SPTCL. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
T101P (p.Thr101Pro) variant details
- p.Thr101Pro
- TOPMed rs1581763917
- Uncertain significance
- in SPTCL
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.36
- CADD 22.40
- PolyPhen-2 0.90
- SIFT 0.00
- EBI: Variant of uncertain significance (in SPTCL)
- UniProt: Uncertain significance (in SPTCL)
- Most common in the Non-Finnish European population (allele frequency 9e-07)