K47E (p.Lys47Glu) variant of MUTYH (Adenine DNA glycosylase)
K47E (p.Lys47Glu) in MUTYH (Adenine DNA glycosylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- rs1451314352
- gnomAD 1-45329396-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 3.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available