R14W (p.Arg14Trp) variant of NTRK2 (Q16620)
R14W (p.Arg14Trp) 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 0.39 / 1. The record also includes population frequency data and structural context.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- rs2058651148
- ClinGen CA374004604
- NCI-TCGA Cosmic COSV5285
- cosmic curated COSV52855
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.39
- CADD 24.60
- PolyPhen-2 0.59
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available