K61I (p.Lys61Ile) variant of CYP2B6 (Cytochrome P450 2B6)
K61I (p.Lys61Ile) in CYP2B6 (Cytochrome P450 2B6) 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 0.42 / 1. The record also includes population frequency data and structural context.
K61I (p.Lys61Ile) variant details
- p.Lys61Ile
- ExAC rs777256437
- TOPMed rs777256437
- gnomAD rs777256437
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.38
- MetaLR 0.51
- MetaSVM -0.44
- CADD 20.70
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available