L15I (p.Leu15Ile) variant of CYP2C9 (Cytochrome P450 2C9)
L15I (p.Leu15Ile) in CYP2C9 (Cytochrome P450 2C9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- rs2031306544
- ClinGen CA377675470
- cosmic curated COSV53246
- ClinVar RCV004133235
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.06
- CADD 2.35
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available