E33K (p.Glu33Lys) variant of NEB (Nebulin)
E33K (p.Glu33Lys) 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, population frequency data, and experimental measurements.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- ESP rs371598760
- ExAC rs371598760
- TOPMed rs371598760
- gnomAD rs371598760
- Uncertain significance
- not provided
- Missense
- REVEL 0.18
- MetaLR 0.04
- MetaSVM -1.07
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- NEB SH3 domain domainome 1.0: score -0.383