P112T (p.Pro112Thr) variant of NEB (Nebulin)
P112T (p.Pro112Thr) 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.
P112T (p.Pro112Thr) variant details
- p.Pro112Thr
- rs369292364
- ClinGen CA1911935
- ClinVar RCV001992264
- ClinVar RCV005439051
- Uncertain significance
- Missense
- REVEL 0.28
- MetaLR 0.03
- MetaSVM -1.05
- CADD 23.00
- PolyPhen-2 0.71
- SIFT 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)