P3L (p.Pro3Leu) variant of LCAT (P04180)
P3L (p.Pro3Leu) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs753021814
- ClinGen CA8121182
- ClinVar RCV002376346
- ClinVar RCV003103552
- Conflicting interpretations
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.31
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available