M124I (p.Met124Ile) variant of GBA1 (P04062)
M124I (p.Met124Ile) 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 0.56 / 1. The record also includes population frequency data and structural context.
M124I (p.Met124Ile) variant details
- p.Met124Ile
- NCI-TCGA TCGA novel
- gnomAD rs1276341717
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.55
- CADD 17.70
- PolyPhen-2 0.05
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available