A127V (p.Ala127Val) variant of MMAB (Q96EY8)
A127V (p.Ala127Val) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
A127V (p.Ala127Val) variant details
- p.Ala127Val
- ExAC rs778169806
- TOPMed rs778169806
- gnomAD rs778169806
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.13
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available