N29I (p.Asn29Ile) variant of LCAT (P04180)
N29I (p.Asn29Ile) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LCATD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N29I (p.Asn29Ile) variant details
- p.Asn29Ile
- UniProt VAR 039020
- Pathogenic
- in LCATD
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.82
- CADD 26.10
- PolyPhen-2 0.94
- SIFT 0.00
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with… (PMID 9007616)
- Cited in: Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial… (PMID 11423760)