K39E (p.Lys39Glu) variant of LCAT (P04180)
K39E (p.Lys39Glu) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K39E (p.Lys39Glu) variant details
- p.Lys39Glu
- gnomAD rs1389355640
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.28
- CADD 21.70
- PolyPhen-2 0.04
- SIFT 0.45
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available