P56S (p.Pro56Ser) variant of MMAB (Q96EY8)
P56S (p.Pro56Ser) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P56S (p.Pro56Ser) variant details
- p.Pro56Ser
- cosmic curated COSV10505
- ExAC rs760645210
- TOPMed rs760645210
- gnomAD rs760645210
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.62
- ESM-1b 0.74
- AlphaMissense 0.25
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available