A2E (p.Ala2Glu) variant of NEB (Nebulin)
A2E (p.Ala2Glu) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- ExAC rs749557861
- gnomAD rs749557861
- Missense
- REVEL 0.13
- MetaLR 0.03
- MetaSVM -1.17
- CADD 26.10
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- NEB SH3 domain domainome 1.0: score -0.164