Y13C (p.Tyr13Cys) variant of NEB (Nebulin)
Y13C (p.Tyr13Cys) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
Y13C (p.Tyr13Cys) variant details
- p.Tyr13Cys
- gnomAD rs2099800930
- Missense
- REVEL 0.14
- MetaLR 0.05
- MetaSVM -1.13
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- NEB SH3 domain domainome 1.0: score -0.688