T153N (p.Thr153Asn) variant of ABCA1 (O95477)
T153N (p.Thr153Asn) 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 0.63 / 1. The record also includes population frequency data and structural context.
T153N (p.Thr153Asn) variant details
- p.Thr153Asn
- rs1836411504
- ClinGen CA374313194
- ClinVar RCV001978415
- TOPMed rs1836411504
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.63
- MetaLR 0.91
- MetaSVM 0.99
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available