P35S (p.Pro35Ser) variant of CYP2C9 (Cytochrome P450 2C9)
P35S (p.Pro35Ser) 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 0.33 / 1. The record also includes population frequency data and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- rs2493000572
- ClinGen CA377675598
- ClinVar RCV004344352
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.15
- CADD 22.10
- PolyPhen-2 0.90
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available