M125V (p.Met125Val) variant of ABCA1 (O95477)
M125V (p.Met125Val) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M125V (p.Met125Val) variant details
- p.Met125Val
- TOPMed rs1364351263
- gnomAD rs1364351263
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.36
- MetaLR 0.57
- MetaSVM -0.23
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available