Y32F (p.Tyr32Phe) variant of NEB (Nebulin)
Y32F (p.Tyr32Phe) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and experimental measurements.
Y32F (p.Tyr32Phe) variant details
- p.Tyr32Phe
- 1000Genomes rs193227711
- ExAC rs193227711
- TOPMed rs193227711
- gnomAD rs193227711
- Likely benign
- Missense
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.95
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- NEB SH3 domain domainome 1.0: score -0.781