S30R (p.Ser30Arg) variant of APOA1 (Apolipoprotein A-I)
S30R (p.Ser30Arg) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- 1000Genomes rs563067047
- ExAC rs563067047
- TOPMed rs563067047
- gnomAD rs563067047
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.09
- CADD 11.30
- PolyPhen-2 0.12
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available