E40D (p.Glu40Asp) variant of KMT2D (O14686)
E40D (p.Glu40Asp) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Kabuki syndrome; Choanal atresia-athelia-hypothyroidism-delayed puberty-short st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E40D (p.Glu40Asp) variant details
- p.Glu40Asp
- rs1339776566
- ClinGen CA384690353
- ClinVar RCV003843919
- ClinVar RCV005013239
- Conflicting interpretations
- Kabuki syndrome; Choanal atresia-athelia-hypothyroidism-delayed puberty-short st
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.34
- MetaLR 0.27
- MetaSVM -0.75
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Kabuki syndrome; Choanal atresia-athelia-hypothyroidism-delayed)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)