T67A (p.Thr67Ala) variant of ASH1L (Q9NR48)
T67A (p.Thr67Ala) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ASH1L-related disorder. The record also includes variant effect predictions and population frequency data.
T67A (p.Thr67Ala) variant details
- p.Thr67Ala
- TOPMed rs1252120318
- gnomAD rs1252120318
- Uncertain significance
- ASH1L-related disorder
- Missense
- REVEL 0.31
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (ASH1L-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)