S23L (p.Ser23Leu) variant of CETP (P11597)
S23L (p.Ser23Leu) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, 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 0.04 / 1. The record also includes population frequency data and structural context.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- rs574035014
- ClinGen CA8070737
- ClinVar RCV003871811
- 1000Genomes rs574035014
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.043
- REVEL 0.01
- CADD 2.44
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available