Y14H (p.Tyr14His) variant of NEB (Nebulin)
Y14H (p.Tyr14His) in NEB (Nebulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and experimental measurements.
Y14H (p.Tyr14His) variant details
- p.Tyr14His
- TOPMed rs1266356538
- gnomAD rs1266356538
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.09
- CADD 25.70
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- NEB SH3 domain domainome 1.0: score 0.0019