C58F (p.Cys58Phe) variant of KMT2D (O14686)
C58F (p.Cys58Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C58F (p.Cys58Phe) variant details
- p.Cys58Phe
- rs2120715393
- ClinGen CA384689618
- ClinVar RCV003047897
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.34
- MetaLR 0.27
- MetaSVM -0.37
- CADD 20.20
- PolyPhen-2 0.26
- SIFT 0.02
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)