H81Q (p.His81Gln) variant of MBP (Myelin basic protein)
H81Q (p.His81Gln) in MBP (Myelin basic protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H81Q (p.His81Gln) variant details
- p.His81Gln
- 1000Genomes rs150638800
- ESP rs150638800
- ExAC rs150638800
- TOPMed rs150638800
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.09
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available