K30N (p.Lys30Asn) variant of CYP2A6 (Cytochrome P450 2A6)
K30N (p.Lys30Asn) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- TOPMed rs1189767290
- gnomAD rs1189767290
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.11
- CADD 0.71
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available