R27T (p.Arg27Thr) variant of NTRK2 (Q16620)
R27T (p.Arg27Thr) in NTRK2 (Q16620) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R27T (p.Arg27Thr) variant details
- p.Arg27Thr
- gnomAD 9-84670828-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.48
- CADD 22.70
- PolyPhen-2 0.82
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available