S23F (p.Ser23Phe) variant of KMT2D (O14686)
S23F (p.Ser23Phe) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- rs1938323806
- ClinGen CA384690934
- NCI-TCGA Cosmic COSV9998
- ClinVar RCV002816296
- Uncertain significance
- Kabuki syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.31
- MetaLR 0.37
- MetaSVM -0.45
- CADD 24.50
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Uncertain significance (Kabuki syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)