E23E (p.Glu23Glu) variant of MLH1 (DNA mismatch repair protein Mlh1)
E23E (p.Glu23Glu) in MLH1 (DNA mismatch repair protein Mlh1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E23E (p.Glu23Glu) variant details
- p.Glu23Glu
- rs63750555
- gnomAD 3-36993616-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 15.40
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. (PMID 17510385)
- Cited in: The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC… (PMID 17210669)