S35P (p.Ser35Pro) variant of GBA1 (P04062)
S35P (p.Ser35Pro) in GBA1 (P04062) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S35P (p.Ser35Pro) variant details
- p.Ser35Pro
- gnomAD rs1348861337
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.26
- CADD 11.20
- PolyPhen-2 0.02
- SIFT 0.32
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available