L73I (p.Leu73Ile) variant of GBA1 (P04062)
L73I (p.Leu73Ile) 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 0.15 / 1. The record also includes population frequency data and structural context.
L73I (p.Leu73Ile) variant details
- p.Leu73Ile
- rs1481448069
- gnomAD rs1481448069
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.18
- CADD 5.52
- PolyPhen-2 0.01
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available