I14T (p.Ile14Thr) variant of PYGM (P11217)
I14T (p.Ile14Thr) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
I14T (p.Ile14Thr) variant details
- p.Ile14Thr
- TOPMed rs1388586019
- gnomAD rs1388586019
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 26.60
- PolyPhen-2 0.70
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available