K127N (p.Lys127Asn) variant of CYP3A4 (Cytochrome P450 3A4)
K127N (p.Lys127Asn) in CYP3A4 (Cytochrome P450 3A4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
K127N (p.Lys127Asn) variant details
- p.Lys127Asn
- TOPMed rs1043569086
- gnomAD rs1043569086
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available