P31A (p.Pro31Ala) variant of CYP2C8 (Cytochrome P450 2C8)
P31A (p.Pro31Ala) in CYP2C8 (Cytochrome P450 2C8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- TOPMed rs944376559
- gnomAD rs944376559
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.93
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available