T119A (p.Thr119Ala) variant of NEB (Nebulin)
T119A (p.Thr119Ala) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
T119A (p.Thr119Ala) variant details
- p.Thr119Ala
- rs182207224
- ClinGen CA1911931
- ClinVar RCV000821137
- ClinVar RCV001550148
- Uncertain significance
- Missense
- REVEL 0.26
- MetaLR 0.27
- MetaSVM -0.65
- CADD 24.00
- PolyPhen-2 0.84
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)