K2Q (p.Lys2Gln) variant of APOA1 (Apolipoprotein A-I)
K2Q (p.Lys2Gln) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K2Q (p.Lys2Gln) variant details
- p.Lys2Gln
- TOPMed rs1941582649
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.45
- CADD 23.90
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available