N18S (p.Asn18Ser) variant of MBP (Myelin basic protein)
N18S (p.Asn18Ser) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N18S (p.Asn18Ser) variant details
- p.Asn18Ser
- ExAC rs768186985
- TOPMed rs768186985
- gnomAD rs768186985
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.05
- CADD 4.80
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available