S23A (p.Ser23Ala) variant of KMT2D (O14686)
S23A (p.Ser23Ala) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S23A (p.Ser23Ala) variant details
- p.Ser23Ala
- rs779539520
- ClinGen CA6548800
- ClinVar RCV002591863
- ClinVar RCV004536634
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.36
- MetaLR 0.26
- MetaSVM -0.79
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Benign (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)