A30V (p.Ala30Val) variant of ABCA1 (O95477)
A30V (p.Ala30Val) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- ExAC rs780741302
- TOPMed rs780741302
- gnomAD rs780741302
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.12
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.99
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available