G39C (p.Gly39Cys) variant of MMAB (Q96EY8)
G39C (p.Gly39Cys) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G39C (p.Gly39Cys) variant details
- p.Gly39Cys
- TOPMed rs1355023968
- gnomAD rs1355023968
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.31
- ESM-1b 0.20
- AlphaMissense 0.11
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available