A54T (p.Ala54Thr) variant of NTRK2 (Q16620)
A54T (p.Ala54Thr) in NTRK2 (Q16620) 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 0.58 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- NCI-TCGA TCGA novel
- TOPMed rs2058659147
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.53
- CADD 23.70
- PolyPhen-2 0.49
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available