Y14D (p.Tyr14Asp) variant of NEB (Nebulin)
Y14D (p.Tyr14Asp) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
Y14D (p.Tyr14Asp) variant details
- p.Tyr14Asp
- TOPMed rs1266356538
- gnomAD rs1266356538
- Missense
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.07
- CADD 25.90
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- NEB SH3 domain domainome 1.0: score 0.0019