G3553V (p.Gly3553Val) variant of KMT2D (O14686)
G3553V (p.Gly3553Val) 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.
G3553V (p.Gly3553Val) variant details
- p.Gly3553Val
- rs2120452825
- ClinGen CA384727569
- ClinVar RCV004801325
- UniProt VAR 087958
- Pathogenic
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 1.00
- MetaLR 0.24
- MetaSVM -0.67
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.11
- ClinVar: Pathogenic (Choanal atresia-athelia-hypothyroidism-delayed puberty-short sta)
- EBI: Pathogenic (in BCAHH)
- UniProt: Pathogenic (in BCAHH)
- Structural context available
- Cited in: An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth… (PMID 12002153)
- Cited in: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. (PMID 31949313)