T27I (p.Thr27Ile) variant of NEB (Nebulin)
T27I (p.Thr27Ile) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
T27I (p.Thr27Ile) variant details
- p.Thr27Ile
- ExAC rs771560364
- gnomAD rs771560364
- Missense
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.94
- CADD 27.50
- PolyPhen-2 0.08
- SIFT 0.04
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- NEB SH3 domain domainome 1.0: score 0.098