Q23K (p.Gln23Lys) variant of APOA1 (Apolipoprotein A-I)
Q23K (p.Gln23Lys) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Q23K (p.Gln23Lys) variant details
- p.Gln23Lys
- TOPMed rs387906570
- gnomAD rs387906570
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.55
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available