S20R (p.Ser20Arg) variant of NTRK3 (NT-3 growth factor receptor)
S20R (p.Ser20Arg) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- ExAC rs771001903
- gnomAD rs771001903
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.40
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available