L3P (p.Leu3Pro) variant of GLA (Alpha-galactosidase A)
L3P (p.Leu3Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- rs150547672
- ClinGen CA022172
- ClinVar RCV000035313
- ClinVar RCV000209183
- Benign/Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.22
- MetaLR 0.98
- MetaSVM 2.04
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)