T117A (p.Thr117Ala) variant of NEB (Nebulin)
T117A (p.Thr117Ala) in NEB (Nebulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
T117A (p.Thr117Ala) variant details
- p.Thr117Ala
- TOPMed rs1453835986
- gnomAD rs1453835986
- Uncertain significance
- not provided
- Missense
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.91
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)