Y13D (p.Tyr13Asp) variant of NEB (Nebulin)
Y13D (p.Tyr13Asp) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and experimental measurements.
Y13D (p.Tyr13Asp) variant details
- p.Tyr13Asp
- TOPMed rs1347004993
- gnomAD rs1347004993
- Uncertain significance
- Missense
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.13
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- NEB SH3 domain domainome 1.0: score -0.688