V53M (p.Val53Met) variant of NTRK2 (Q16620)
V53M (p.Val53Met) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- rs778391314
- ClinGen CA5105414
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52890
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.07
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available