S4P (p.Ser4Pro) variant of GBA1 (P04062)
S4P (p.Ser4Pro) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Lewy body dementia; Gaucher disease perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- rs2148083300
- ClinGen CA342730989
- ClinVar RCV001758781
- ClinVar RCV002488578
- Uncertain significance
- not provided; Lewy body dementia; Gaucher disease perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.06
- MetaLR 0.82
- MetaSVM 0.64
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.12
- ClinVar: Uncertain significance (not provided; Lewy body dementia; Gaucher disease perinatal leth)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Gaucher Disease. (PMID 20301446)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)