K40T (p.Lys40Thr) variant of CLU (Clusterin)
K40T (p.Lys40Thr) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K40T (p.Lys40Thr) variant details
- p.Lys40Thr
- TOPMed rs1330193914
- gnomAD rs1330193914
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.19
- CADD 23.00
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available