L19I (p.Leu19Ile) variant of CYP2C9 (Cytochrome P450 2C9)
L19I (p.Leu19Ile) in CYP2C9 (Cytochrome P450 2C9) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP2C9*7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L19I (p.Leu19Ile) variant details
- p.Leu19Ile
- rs67807361
- cosmic curated COSV53246
- UniProt VAR 018862
- 1000Genomes rs67807361
- Benign
- in allele CYP2C9*7
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.06
- CADD 1.08
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Benign (in allele CYP2C9*7)
- UniProt: Benign (in allele CYP2C9*7)
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available