K143T (p.Lys143Thr) variant of ABCA1 (O95477)
K143T (p.Lys143Thr) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K143T (p.Lys143Thr) variant details
- p.Lys143Thr
- gnomAD rs1836414141
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.42
- MetaLR 0.82
- MetaSVM 0.48
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available