S31L (p.Ser31Leu) variant of KMT2D (O14686)
S31L (p.Ser31Leu) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- rs1448043458
- ClinGen CA384690719
- ClinVar RCV002003220
- gnomAD rs1448043458
- Likely benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.35
- MetaLR 0.24
- MetaSVM -0.77
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Likely benign (Kabuki syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)