A15G (p.Ala15Gly) variant of CETP (P11597)
A15G (p.Ala15Gly) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Hyperalphalipoproteinemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- rs34065661
- ClinGen CA8070732
- ClinVar RCV000371616
- ClinVar RCV000966006
- Benign
- not specified; not provided; Hyperalphalipoproteinemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.01
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -1.01
- CADD 6.87
- PolyPhen-2 0.08
- ClinVar: Benign (not specified; not provided; Hyperalphalipoproteinemia 1)
- EBI: Benign (in dbSNP:rs34065661)
- UniProt: Benign (in dbSNP:rs34065661)
- Most common in the HGDP:MBUTI population (allele frequency 0.17)
- Structural context available
- Cited in: Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10… (PMID 12966036)
- Cited in: CETP-Related Hyperalphalipoproteinemia. (PMID 40339105)