M120I (p.Met120Ile) variant of PYGM (P11217)
M120I (p.Met120Ile) in PYGM (P11217) 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 0.48 / 1. The record also includes population frequency data and structural context.
M120I (p.Met120Ile) variant details
- p.Met120Ile
- TOPMed rs1230252473
- gnomAD rs1230252473
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.32
- ESM-1b 0.48
- AlphaMissense 0.37
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available