D72G (p.Asp72Gly) variant of APOA1 (Apolipoprotein A-I)
D72G (p.Asp72Gly) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D72G (p.Asp72Gly) variant details
- p.Asp72Gly
- gnomAD 11-116836397-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.47
- CADD 27.30
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available