T113I (p.Thr113Ile) variant of PYGM (P11217)
T113I (p.Thr113Ile) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T113I (p.Thr113Ile) variant details
- p.Thr113Ile
- rs147571836
- ClinGen CA6080306
- ClinVar RCV001277995
- ESP rs147571836
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 15.40
- PolyPhen-2 0.06
- SIFT 0.41
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)