T53K (p.Thr53Lys) variant of APOC2 (Apolipoprotein C-II)
T53K (p.Thr53Lys) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T53K (p.Thr53Lys) variant details
- p.Thr53Lys
- gnomAD rs1430966275
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.27
- CADD 4.74
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available