N44S (p.Asn44Ser) variant of NTRK3 (NT-3 growth factor receptor)
N44S (p.Asn44Ser) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- rs761851885
- ClinGen CA7717416
- cosmic curated COSV10588
- ClinVar RCV004310411
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.23
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available