T28I (p.Thr28Ile) variant of ASH1L (Q9NR48)
T28I (p.Thr28Ile) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
T28I (p.Thr28Ile) variant details
- p.Thr28Ile
- cosmic curated COSV64205
- TOPMed rs1428513096
- gnomAD rs1428513096
- Missense
- REVEL 0.22
- CADD 18.10
- Most common in the African/African-American population (allele frequency 2.4e-05)