M6I (p.Met6Ile) variant of CYP2A6 (Cytochrome P450 2A6)
M6I (p.Met6Ile) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M6I (p.Met6Ile) variant details
- p.Met6Ile
- NCI-TCGA Cosmic COSV5653
- ExAC rs775409921
- gnomAD rs775409921
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.73
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available