N31K (p.Asn31Lys) variant of MBP (Myelin basic protein)
N31K (p.Asn31Lys) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
N31K (p.Asn31Lys) variant details
- p.Asn31Lys
- 1000Genomes rs1974199060
- gnomAD rs1974199060
- cosmic curated COSV63556
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.02
- CADD 6.11
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available