R3705P (p.Arg3705Pro) variant of KMT2A (Q03164)
R3705P (p.Arg3705Pro) 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 published literature.
R3705P (p.Arg3705Pro) variant details
- p.Arg3705Pro
- rs907814598
- ClinGen CA382830607
- ClinVar RCV003223473
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 0.45
- MetaLR 0.23
- MetaSVM -0.72
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.67
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)