R878W (p.Arg878Trp) variant of KMT2A (Q03164)
R878W (p.Arg878Trp) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Wiedemann-Steiner syndrome. The record also includes variant effect predictions and population frequency data.
R878W (p.Arg878Trp) variant details
- p.Arg878Trp
- rs1555036661
- NCI-TCGA Cosmic COSV6328
- cosmic curated COSV63283
- TOPMed rs1555036661
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- REVEL 0.47
- MetaLR 0.76
- MetaSVM 0.64
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)