K64E (p.Lys64Glu) variant of NEB (Nebulin)
K64E (p.Lys64Glu) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
K64E (p.Lys64Glu) variant details
- p.Lys64Glu
- 1000Genomes rs565823706
- Missense
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.97
- CADD 22.40
- PolyPhen-2 0.64
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)