P67L (p.Pro67Leu) variant of GBA1 (P04062)
P67L (p.Pro67Leu) in GBA1 (P04062) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P67L (p.Pro67Leu) variant details
- p.Pro67Leu
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- TOPMed rs1671993318
- gnomAD rs1671993318
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.68
- CADD 22.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available