N42K (p.Asn42Lys) variant of CYP2B6 (Cytochrome P450 2B6)
N42K (p.Asn42Lys) in CYP2B6 (Cytochrome P450 2B6) is a missense change. 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.
N42K (p.Asn42Lys) variant details
- p.Asn42Lys
- gnomAD rs1467154235
- cosmic curated COSV60700
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.48
- MetaLR 0.60
- MetaSVM 0.10
- CADD 16.40
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available