T29A (p.Thr29Ala) variant of NEB (Nebulin)
T29A (p.Thr29Ala) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nemaline myopathy 2. The record also includes variant effect predictions, population frequency data, experimental measurements, and published literature.
T29A (p.Thr29Ala) variant details
- p.Thr29Ala
- rs1244801231
- ClinGen CA348795951
- ClinVar RCV002643020
- gnomAD rs1244801231
- Uncertain significance
- Nemaline myopathy 2
- Missense
- REVEL 0.16
- MetaLR 0.03
- MetaSVM -0.96
- CADD 24.80
- SIFT 0.00
- ClinVar: Uncertain significance (Nemaline myopathy 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- NEB SH3 domain domainome 1.0: score -1.04
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)