Y29C (p.Tyr29Cys) variant of MMAB (Q96EY8)
Y29C (p.Tyr29Cys) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Y29C (p.Tyr29Cys) variant details
- p.Tyr29Cys
- TOPMed rs1884737675
- gnomAD rs1884737675
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 17.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available