P8S (p.Pro8Ser) variant of CYP1A2 (Cytochrome P450 1A2)
P8S (p.Pro8Ser) in CYP1A2 (Cytochrome P450 1A2) 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 0.10 / 1. The record also includes population frequency data and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- rs751760377
- ClinGen CA7659663
- NCI-TCGA Cosmic COSV1006
- ClinVar RCV004151903
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0978
- REVEL 0.05
- CADD 2.10
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available