A51V (p.Ala51Val) variant of MBP (Myelin basic protein)
A51V (p.Ala51Val) 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.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- gnomAD rs1377507467
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.13
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available