R27K (p.Arg27Lys) variant of NTRK2 (Q16620)
R27K (p.Arg27Lys) in NTRK2 (Q16620) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- gnomAD 9-84670828-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.33
- CADD 22.30
- PolyPhen-2 0.75
- SIFT 0.96
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available