K137E (p.Lys137Glu) variant of ABCA1 (O95477)
K137E (p.Lys137Glu) 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 0.30 / 1. The record also includes population frequency data and structural context.
K137E (p.Lys137Glu) variant details
- p.Lys137Glu
- rs770247341
- ClinGen CA5169408
- ClinVar RCV003067121
- ExAC rs770247341
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.21
- MetaLR 0.77
- MetaSVM -0.24
- CADD 4.83
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available