P78T (p.Pro78Thr) variant of NEB (Nebulin)
P78T (p.Pro78Thr) in NEB (Nebulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
P78T (p.Pro78Thr) variant details
- p.Pro78Thr
- gnomAD rs2099795522
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.92
- CADD 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)