A80V (p.Ala80Val) variant of MBP (Myelin basic protein)
A80V (p.Ala80Val) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A80V (p.Ala80Val) variant details
- p.Ala80Val
- cosmic curated COSV62829
- Ensembl rs868032492
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.27
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available