Y61F (p.Tyr61Phe) variant of GBA1 (P04062)
Y61F (p.Tyr61Phe) 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 0.72 / 1. The record also includes population frequency data and structural context.
Y61F (p.Tyr61Phe) variant details
- p.Tyr61Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.78
- CADD 25.40
- PolyPhen-2 0.88
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available