A16S (p.Ala16Ser) variant of NTRK1 (P04629)
A16S (p.Ala16Ser) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- TOPMed rs1239139469
- gnomAD rs1239139469
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.14
- MetaLR 0.31
- MetaSVM -0.65
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available