I101T (p.Ile101Thr) variant of ABCA1 (O95477)
I101T (p.Ile101Thr) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I101T (p.Ile101Thr) variant details
- p.Ile101Thr
- ExAC rs746595809
- gnomAD rs746595809
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.61
- MetaLR 0.26
- MetaSVM -0.65
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available