I74V (p.Ile74Val) variant of ABCA1 (O95477)
I74V (p.Ile74Val) in ABCA1 (O95477) 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.
I74V (p.Ile74Val) variant details
- p.Ile74Val
- TOPMed rs1588502130
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.49
- MetaLR 0.89
- MetaSVM 0.73
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available