Q133P (p.Gln133Pro) variant of ABCA1 (O95477)
Q133P (p.Gln133Pro) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q133P (p.Gln133Pro) variant details
- p.Gln133Pro
- rs771194181
- ClinGen CA5169411
- ClinVar RCV002700564
- ExAC rs771194181
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.42
- MetaLR 0.82
- MetaSVM 0.25
- CADD 7.25
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available