W22C (p.Trp22Cys) variant of NTRK3 (NT-3 growth factor receptor)
W22C (p.Trp22Cys) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
W22C (p.Trp22Cys) variant details
- p.Trp22Cys
- gnomAD rs1288150213
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.28
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available