N52S (p.Asn52Ser) variant of MBP (Myelin basic protein)
N52S (p.Asn52Ser) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- ExAC rs779241556
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.16
- CADD 7.43
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available