Y25C (p.Tyr25Cys) variant of NTRK3 (NT-3 growth factor receptor)
Y25C (p.Tyr25Cys) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y25C (p.Tyr25Cys) variant details
- p.Tyr25Cys
- TOPMed rs1169532276
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.28
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.12
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available