D48A (p.Asp48Ala) variant of APOA1 (Apolipoprotein A-I)
D48A (p.Asp48Ala) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D48A (p.Asp48Ala) variant details
- p.Asp48Ala
- Ensembl rs1941569247
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.13
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available