M18T (p.Met18Thr) variant of CYP2A6 (Cytochrome P450 2A6)
M18T (p.Met18Thr) in CYP2A6 (Cytochrome P450 2A6) 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 0.20 / 1. The record also includes population frequency data and structural context.
M18T (p.Met18Thr) variant details
- p.Met18Thr
- TOPMed rs1380550319
- gnomAD rs1380550319
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.13
- CADD 14.80
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available