P30T (p.Pro30Thr) variant of CYP2C8 (Cytochrome P450 2C8)
P30T (p.Pro30Thr) in CYP2C8 (Cytochrome P450 2C8) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- ExAC rs776380824
- TOPMed rs776380824
- gnomAD rs776380824
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.72
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available