M122I (p.Met122Ile) variant of ABCA1 (O95477)
M122I (p.Met122Ile) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M122I (p.Met122Ile) variant details
- p.Met122Ile
- TOPMed rs1380061540
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.25
- MetaLR 0.66
- MetaSVM -0.15
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available