R47Q (p.Arg47Gln) variant of LCAT (P04180)
R47Q (p.Arg47Gln) in LCAT (P04180) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
R47Q (p.Arg47Gln) variant details
- p.Arg47Gln
- rs774333955
- NCI-TCGA Cosmic COSV5045
- ExAC rs774333955
- gnomAD rs774333955
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.36
- CADD 22.60
- PolyPhen-2 0.13
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available