N1183D (p.Asn1183Asp) variant of KMT2A (Q03164)
N1183D (p.Asn1183Asp) 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.
N1183D (p.Asn1183Asp) variant details
- p.Asn1183Asp
- rs2134287568
- ClinGen CA382825168
- ClinVar RCV002249088
- Ensembl rs2134287568
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)