P305A (p.Pro305Ala) variant of GBA1 (P04062)
P305A (p.Pro305Ala) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P305A (p.Pro305Ala) variant details
- p.Pro305Ala
- rs770796008
- ClinGen CA1141663
- ClinVar RCV001004124
- ClinVar RCV003132139
- Conflicting interpretations
- not provided; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.95
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Gaucher disease-ophthalmoplegia-cardiovascular cal)
- EBI: Likely pathogenic (in GD1)
- UniProt: Likely pathogenic (in GD1)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)