S42F (p.Ser42Phe) variant of KMT2D (O14686)
S42F (p.Ser42Phe) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- rs1555198886
- ClinGen CA384690291
- ClinVar RCV000505820
- Ensembl rs1555198886
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.13
- MetaLR 0.38
- MetaSVM -0.42
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.28
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)