R164H (p.Arg164His) variant of LCAT (P04180)
R164H (p.Arg164His) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R164H (p.Arg164His) variant details
- p.Arg164His
- rs769485083
- ClinGen CA8121062
- ClinVar RCV001975068
- UniProt VAR 004258
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.90
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Population evidence available
- Structural context available
- Cited in: Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate… (PMID 16216249)
- Cited in: A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an… (PMID 7607641)