P30S (p.Pro30Ser) variant of CYP2C9 (Cytochrome P450 2C9)
P30S (p.Pro30Ser) 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 0.55 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- NCI-TCGA Cosmic COSV5324
- cosmic curated COSV53249
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.52
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available