D79Y (p.Asp79Tyr) variant of MBP (Myelin basic protein)
D79Y (p.Asp79Tyr) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D79Y (p.Asp79Tyr) variant details
- p.Asp79Tyr
- TOPMed rs1476565648
- gnomAD rs1476565648
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available