K50T (p.Lys50Thr) variant of APOL1 (Apolipoprotein L1)
K50T (p.Lys50Thr) in APOL1 (Apolipoprotein L1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K50T (p.Lys50Thr) variant details
- p.Lys50Thr
- rs775578609
- gnomAD 22-36257368-A-ACT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.70
- Most common in the 1KG:MSL population (allele frequency 0.019)
- Structural context available
- Literature evidence available