A49V (p.Ala49Val) variant of MBP (Myelin basic protein)
A49V (p.Ala49Val) 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, published literature, and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs761965498
- gnomAD 18-76980454-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 6.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available