P2633L (p.Pro2633Leu) variant of KMT2A (Q03164)
P2633L (p.Pro2633Leu) 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.
P2633L (p.Pro2633Leu) variant details
- p.Pro2633Leu
- rs2134395213
- ClinVar RCV004594987
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)