S70C (p.Ser70Cys) variant of NTRK3 (NT-3 growth factor receptor)
S70C (p.Ser70Cys) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S70C (p.Ser70Cys) variant details
- p.Ser70Cys
- ExAC rs751297846
- gnomAD rs751297846
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.20
- CADD 24.70
- PolyPhen-2 0.63
- SIFT 0.08
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available