A3541P (p.Ala3541Pro) variant of KMT2D (O14686)
A3541P (p.Ala3541Pro) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.35 / 1. The record also includes published literature and structural context.
A3541P (p.Ala3541Pro) variant details
- p.Ala3541Pro
- rs2120453584
- ClinGen CA384727908
- ClinVar RCV004801326
- UniProt VAR 087956
- Pathogenic/Likely pathogenic
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.98
- MetaLR 0.22
- MetaSVM -0.71
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.22
- ClinVar: Pathogenic/Likely pathogenic (Choanal atresia-athelia-hypothyroidism-delayed puberty-short sta)
- EBI: Pathogenic (in BCAHH)
- UniProt: Pathogenic (in BCAHH)
- Structural context available
- Cited in: Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. (PMID 32083401)
- Cited in: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. (PMID 31949313)