R14Q (p.Arg14Gln) variant of NTRK2 (Q16620)
R14Q (p.Arg14Gln) 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 0.28 / 1. The record also includes population frequency data and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- NCI-TCGA Cosmic COSV5287
- cosmic curated COSV52876
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available