T41A (p.Thr41Ala) variant of HAVCR2 (Q8TDQ0)
T41A (p.Thr41Ala) 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.
T41A (p.Thr41Ala) variant details
- p.Thr41Ala
- rs1488560271
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- TOPMed rs1488560271
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0501
- REVEL 0.03
- CADD 3.43
- PolyPhen-2 0.01
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)