H88Y (p.His88Tyr) variant of NEB (Nebulin)
H88Y (p.His88Tyr) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
H88Y (p.His88Tyr) variant details
- p.His88Tyr
- TOPMed rs1217590967
- gnomAD rs1217590967
- Missense
- REVEL 0.29
- MetaLR 0.22
- MetaSVM -0.84
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 0.00031)