K40N (p.Lys40Asn) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
K40N (p.Lys40Asn) in UGT2B7 (UDP-glucuronosyltransferase 2B7) 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 0.27 / 1. The record also includes population frequency data and structural context.
K40N (p.Lys40Asn) variant details
- p.Lys40Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.14
- MetaLR 0.29
- MetaSVM -0.82
- CADD 21.70
- PolyPhen-2 0.97
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available