L19P (p.Leu19Pro) variant of PYGM (P11217)
L19P (p.Leu19Pro) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD rs1196742852
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.82
- ESM-1b 0.00
- AlphaMissense 0.85
- CADD 29.40
- PolyPhen-2 0.82
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available