D72V (p.Asp72Val) variant of APOA1 (Apolipoprotein A-I)
D72V (p.Asp72Val) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D72V (p.Asp72Val) variant details
- p.Asp72Val
- gnomAD 11-116836397-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.56
- CADD 26.90
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available