Q59K (p.Gln59Lys) variant of NEB (Nebulin)
Q59K (p.Gln59Lys) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and experimental measurements.
Q59K (p.Gln59Lys) variant details
- p.Gln59Lys
- Ensembl rs867732907
- Pathogenic
- Missense
- REVEL 0.01
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.92
- CADD 5.66
- PolyPhen-2 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- NEB SH3 domain domainome 1.0: score -0.992