E3569G (p.Glu3569Gly) variant of KMT2D (O14686)
E3569G (p.Glu3569Gly) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
E3569G (p.Glu3569Gly) variant details
- p.Glu3569Gly
- rs2120451660
- ClinGen CA384727191
- ClinVar RCV004801321
- UniProt VAR 087960
- Likely pathogenic
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.95
- MetaLR 0.24
- MetaSVM -0.62
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.08
- ClinVar: Likely pathogenic (Choanal atresia-athelia-hypothyroidism-delayed puberty-short sta)
- EBI: Likely pathogenic (in BCAHH)
- UniProt: Likely pathogenic (in BCAHH)
- Structural context available
- Cited in: Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D. (PMID 35060672)
- Cited in: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. (PMID 31949313)