Y142C (p.Tyr142Cys) variant of MMAB (Q96EY8)
Y142C (p.Tyr142Cys) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Y142C (p.Tyr142Cys) variant details
- p.Tyr142Cys
- TOPMed rs1047443761
- gnomAD rs1047443761
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 6.95
- PolyPhen-2 0.36
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available