S60A (p.Ser60Ala) variant of APOA1 (Apolipoprotein A-I)
S60A (p.Ser60Ala) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S60A (p.Ser60Ala) variant details
- p.Ser60Ala
- rs199759119
- ClinGen CA6289877
- ClinVar RCV001873509
- ClinVar RCV002411631
- Conflicting interpretations
- not specified; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.64
- CADD 22.80
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00069)
- Structural context available