S30Y (p.Ser30Tyr) variant of NTRK1 (P04629)
S30Y (p.Ser30Tyr) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S30Y (p.Ser30Tyr) variant details
- p.Ser30Tyr
- rs2102879132
- ClinGen CA342929402
- ClinVar RCV002376320
- Ensembl rs2102879132
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.25
- MetaLR 0.10
- MetaSVM -0.91
- CADD 15.50
- PolyPhen-2 0.26
- SIFT 0.58
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)