S68C (p.Ser68Cys) variant of MMAB (Q96EY8)
S68C (p.Ser68Cys) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
S68C (p.Ser68Cys) variant details
- p.Ser68Cys
- gnomAD rs1296874378
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 29.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available