S47I (p.Ser47Ile) variant of GBA1 (P04062)
S47I (p.Ser47Ile) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S47I (p.Ser47Ile) variant details
- p.Ser47Ile
- 1000Genomes rs543005460
- ExAC rs543005460
- gnomAD rs543005460
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.51
- CADD 18.40
- PolyPhen-2 0.04
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available