R31H (p.Arg31His) variant of CETP (P11597)
R31H (p.Arg31His) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Hyperalphalipoproteinemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R31H (p.Arg31His) variant details
- p.Arg31His
- rs147758502
- ClinGen CA8070747
- cosmic curated COSV99059
- ClinVar RCV000389076
- Uncertain significance
- not specified; not provided; Hyperalphalipoproteinemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.24
- CADD 23.60
- PolyPhen-2 0.68
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; not provided; Hyperalphalipoproteinemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: CETP-Related Hyperalphalipoproteinemia. (PMID 40339105)