L5P (p.Leu5Pro) variant of PYGM (P11217)
L5P (p.Leu5Pro) in PYGM (P11217) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Tip-toe gait. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- Ensembl rs2058423247
- Benign
- Tip-toe gait
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 24.60
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Benign (Tip-toe gait)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available