E24* (p.Glu24Ter) variant of KMT2D (O14686)
E24* (p.Glu24Ter) in KMT2D (O14686) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- rs1555198910
- ClinGen CA384690933
- ClinVar RCV000622718
- Ensembl rs1555198910
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 34.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)