A11T (p.Ala11Thr) variant of KMT2A (Q03164)
A11T (p.Ala11Thr) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wiedemann-Steiner syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs2134152030
- ClinGen CA382796786
- ClinVar RCV003148511
- Ensembl rs2134152030
- Uncertain significance
- Wiedemann-Steiner syndrome
- Missense
- REVEL 0.19
- MetaLR 0.33
- MetaSVM -0.62
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Wiedemann-Steiner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8e-05)
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)