P45L (p.Pro45Leu) variant of GBA1 (P04062)
P45L (p.Pro45Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- rs1553218377
- ClinGen CA342728535
- ClinVar RCV000585213
- Ensembl rs1553218377
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.16
- MetaLR 0.47
- MetaSVM -0.37
- PolyPhen-2 0.27
- SIFT 0.05
- MutPred 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available