S30F (p.Ser30Phe) variant of NTRK1 (P04629)
S30F (p.Ser30Phe) in NTRK1 (P04629) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- Ensembl rs2102879132
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.11
- MetaLR 0.12
- MetaSVM -0.95
- CADD 17.70
- PolyPhen-2 0.19
- SIFT 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available