P4L (p.Pro4Leu) variant of PYGM (P11217)
P4L (p.Pro4Leu) 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.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- ExAC rs752266996
- TOPMed rs752266996
- gnomAD rs752266996
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 28.70
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available