S28F (p.Ser28Phe) variant of NTRK3 (NT-3 growth factor receptor)
S28F (p.Ser28Phe) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from ClinVar, EBI, 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 0.47 / 1. The record also includes population frequency data and structural context.
S28F (p.Ser28Phe) variant details
- p.Ser28Phe
- rs201985502
- ClinGen CA7717425
- ClinVar RCV004183318
- 1000Genomes rs201985502
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.30
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available