L3528V (p.Leu3528Val) variant of KMT2D (O14686)
L3528V (p.Leu3528Val) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
L3528V (p.Leu3528Val) variant details
- p.Leu3528Val
- rs2120454333
- ClinGen CA384728154
- ClinVar RCV004801323
- UniProt VAR 087955
- Pathogenic
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.95
- MetaLR 0.18
- MetaSVM -0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.25
- ClinVar: Pathogenic (Choanal atresia-athelia-hypothyroidism-delayed puberty-short sta)
- EBI: Pathogenic (in BCAHH)
- UniProt: Pathogenic (in BCAHH)
- Structural context available
- Cited in: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. (PMID 31949313)
- Cited in: Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. (PMID 32083401)