R5030L (p.Arg5030Leu) variant of KMT2D (O14686)
R5030L (p.Arg5030Leu) 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; K. The record also includes structural context.
R5030L (p.Arg5030Leu) variant details
- p.Arg5030Leu
- Ensembl rs1592105909
- Likely pathogenic
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome; K
- Missense
- ClinVar: Likely pathogenic (Choanal atresia-athelia-hypothyroidism-delayed puberty-short sta)
- EBI: Likely pathogenic (in KABUK1)
- UniProt: Likely pathogenic (in KABUK1)
- Structural context available