Y32C (p.Tyr32Cys) variant of NEB (Nebulin)
Y32C (p.Tyr32Cys) 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, experimental measurements, and published literature.
Y32C (p.Tyr32Cys) variant details
- p.Tyr32Cys
- rs193227711
- ClinGen CA1911994
- ClinVar RCV001915710
- 1000Genomes rs193227711
- Likely benign
- Missense
- REVEL 0.13
- MetaLR 0.02
- MetaSVM -0.97
- CADD 24.70
- PolyPhen-2 0.39
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- NEB SH3 domain domainome 1.0: score -0.781
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)