L19V (p.Leu19Val) variant of PYGM (P11217)
L19V (p.Leu19Val) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- 1000Genomes rs535560622
- ExAC rs535560622
- gnomAD rs535560622
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available