Y79C (p.Tyr79Cys) variant of GBA1 (P04062)
Y79C (p.Tyr79Cys) 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 0.65 / 1. The record also includes population frequency data and structural context.
Y79C (p.Tyr79Cys) variant details
- p.Tyr79Cys
- rs1553218329
- Ensembl rs1553218329
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.72
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available