Y14C (p.Tyr14Cys) variant of NEB (Nebulin)
Y14C (p.Tyr14Cys) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
Y14C (p.Tyr14Cys) variant details
- p.Tyr14Cys
- gnomAD rs1227854211
- Missense
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -1.11
- CADD 25.10
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- NEB SH3 domain domainome 1.0: score 0.0019