K39* (p.Lys39Ter) variant of LCAT (P04180)
K39* (p.Lys39Ter) in LCAT (P04180) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
K39* (p.Lys39Ter) variant details
- p.Lys39Ter
- gnomAD rs1389355640
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available