A51T (p.Ala51Thr) variant of NEB (Nebulin)
A51T (p.Ala51Thr) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- 1000Genomes rs553527829
- ExAC rs553527829
- gnomAD rs553527829
- Missense
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.96
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- NEB SH3 domain domainome 1.0: score -0.699