P1829T (p.Pro1829Thr) variant of KMT2A (Q03164)
P1829T (p.Pro1829Thr) 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.
P1829T (p.Pro1829Thr) variant details
- p.Pro1829Thr
- rs797045051
- ClinGen CA250368
- ClinVar RCV000191101
- Ensembl rs797045051
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 0.13
- MetaLR 0.44
- MetaSVM -0.09
- PolyPhen-2 0.55
- SIFT 0.01
- EVE 0.46
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)