A80S (p.Ala80Ser) variant of MBP (Myelin basic protein)
A80S (p.Ala80Ser) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A80S (p.Ala80Ser) variant details
- p.Ala80Ser
- cosmic curated COSV62830
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.38
- CADD 22.70
- PolyPhen-2 0.92
- SIFT 0.07
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available