I126T (p.Ile126Thr) variant of PYGM (P11217)
I126T (p.Ile126Thr) 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 0.59 / 1. The record also includes population frequency data and structural context.
I126T (p.Ile126Thr) variant details
- p.Ile126Thr
- gnomAD rs1592415683
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 19.90
- PolyPhen-2 0.18
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available