P221T (p.Pro221Thr) variant of GBA1 (P04062)
P221T (p.Pro221Thr) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gaucher disease; not provided; Gaucher disease perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P221T (p.Pro221Thr) variant details
- p.Pro221Thr
- rs866075757
- ClinGen CA30895561
- ClinVar RCV001199857
- ClinVar RCV002497680
- Pathogenic/Likely pathogenic
- Gaucher disease; not provided; Gaucher disease perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.96
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease; not provided; Gaucher disease perinatal lethal)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Glucocerebrosidase mutations in Gaucher disease. (PMID 8790604)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)