H81N (p.His81Asn) variant of MBP (Myelin basic protein)
H81N (p.His81Asn) 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.
H81N (p.His81Asn) variant details
- p.His81Asn
- ExAC rs781748075
- gnomAD rs781748075
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.07
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available