P34Q (p.Pro34Gln) variant of LCAT (P04180)
P34Q (p.Pro34Gln) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- rs121908051
- UniProt VAR 039021
- gnomAD rs121908051
- Pathogenic
- in FED
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.81
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic (in FED)
- UniProt: Pathogenic (in FED)
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Cited in: Two novel molecular defects in the LCAT gene are associated with fish eye disease. (PMID 8620346)
- Cited in: The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. (PMID 1516702)