P31S (p.Pro31Ser) variant of CYP2C8 (Cytochrome P450 2C8)
P31S (p.Pro31Ser) in CYP2C8 (Cytochrome P450 2C8) 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 0.38 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs944376559
- ClinGen CA211732104
- ClinVar RCV004075049
- TOPMed rs944376559
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.23
- CADD 23.40
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available