R57S (p.Arg57Ser) variant of NTRK2 (Q16620)
R57S (p.Arg57Ser) in NTRK2 (Q16620) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R57S (p.Arg57Ser) variant details
- p.Arg57Ser
- gnomAD 9-84670919-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.65
- CADD 18.90
- PolyPhen-2 0.22
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available