A20P (p.Ala20Pro) variant of PYGM (P11217)
A20P (p.Ala20Pro) in PYGM (P11217) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- rs775674324
- ExAC rs775674324
- gnomAD rs775674324
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- ESM-1b 1.00
- AlphaMissense 0.47
- MetaLR 0.77
- MetaSVM 0.41
- PolyPhen-2 0.01
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available