R19W (p.Arg19Trp) variant of APOA1 (Apolipoprotein A-I)
R19W (p.Arg19Trp) 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 0.44 / 1. The record also includes population frequency data and structural context.
R19W (p.Arg19Trp) variant details
- p.Arg19Trp
- rs371084971
- ClinGen CA6289907
- cosmic curated COSV52635
- ClinVar RCV001940062
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.18
- CADD 24.90
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available