D25G (p.Asp25Gly) variant of APOA1 (Apolipoprotein A-I)
D25G (p.Asp25Gly) 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 0.50 / 1. The record also includes population frequency data and structural context.
D25G (p.Asp25Gly) variant details
- p.Asp25Gly
- rs1223595170
- ClinGen CA382721235
- ClinVar RCV002298052
- gnomAD rs1223595170
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.45
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available