D48G (p.Asp48Gly) variant of APOA1 (Apolipoprotein A-I)
D48G (p.Asp48Gly) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D48G (p.Asp48Gly) variant details
- p.Asp48Gly
- rs1941569247
- ClinGen CA382719011
- ClinVar RCV003695744
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.31
- CADD 23.60
- PolyPhen-2 0.40
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available