S20N (p.Ser20Asn) variant of NTRK3 (NT-3 growth factor receptor)
S20N (p.Ser20Asn) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- ExAC rs781379782
- gnomAD rs781379782
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.19
- CADD 23.00
- PolyPhen-2 0.92
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available