H90N (p.His90Asn) variant of MBP (Myelin basic protein)
H90N (p.His90Asn) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
H90N (p.His90Asn) variant details
- p.His90Asn
- ExAC rs773007424
- gnomAD rs773007424
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.51
- CADD 25.80
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available