T108A (p.Thr108Ala) variant of NEB (Nebulin)
T108A (p.Thr108Ala) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
T108A (p.Thr108Ala) variant details
- p.Thr108Ala
- rs544069233
- ClinGen CA1911937
- ClinVar RCV000641465
- ClinVar RCV005438907
- Likely benign
- Missense
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.04
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.84
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)