A44T (p.Ala44Thr) variant of HAVCR2 (Q8TDQ0)
A44T (p.Ala44Thr) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- rs765773071
- NCI-TCGA Cosmic COSV5715
- cosmic curated COSV57152
- ExAC rs765773071
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.047
- REVEL 0.02
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00087)