S84C (p.Ser84Cys) variant of GBA1 (P04062)
S84C (p.Ser84Cys) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S84C (p.Ser84Cys) variant details
- p.Ser84Cys
- Ensembl rs1188844416
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.55
- CADD 25.10
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available