P30L (p.Pro30Leu) variant of CYP2C9 (Cytochrome P450 2C9)
P30L (p.Pro30Leu) in CYP2C9 (Cytochrome P450 2C9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- ESP rs142240658
- ExAC rs142240658
- TOPMed rs142240658
- gnomAD rs142240658
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.56
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00085)
- Structural context available