P4S (p.Pro4Ser) variant of LCAT (P04180)
P4S (p.Pro4Ser) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs1323619408
- ClinGen CA396383085
- ClinVar RCV004291589
- TOPMed rs1323619408
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.26
- CADD 8.15
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available