S27N (p.Ser27Asn) variant of KMT2D (O14686)
S27N (p.Ser27Asn) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- rs746049766
- ClinGen CA6548798
- ClinVar RCV002919150
- ClinVar RCV004758894
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.39
- MetaLR 0.24
- MetaSVM -0.77
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Benign (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)