S138P (p.Ser138Pro) variant of ABCA1 (O95477)
S138P (p.Ser138Pro) in ABCA1 (O95477) 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.
S138P (p.Ser138Pro) variant details
- p.Ser138Pro
- rs1416907998
- ClinGen CA374315894
- ClinVar RCV002333057
- TOPMed rs1416907998
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.19
- MetaLR 0.65
- MetaSVM -0.20
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available