P35L (p.Pro35Leu) variant of CYP2C9 (Cytochrome P450 2C9)
P35L (p.Pro35Leu) in CYP2C9 (Cytochrome P450 2C9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs753338224
- NCI-TCGA Cosmic COSV9958
- cosmic curated COSV99582
- ExAC rs753338224
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.77
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available