Q78H (p.Gln78His) variant of MBP (Myelin basic protein)
Q78H (p.Gln78His) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Q78H (p.Gln78His) variant details
- p.Gln78His
- gnomAD rs1169288186
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.19
- CADD 9.56
- PolyPhen-2 0.14
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available