T114I (p.Thr114Ile) variant of ASH1L (Q9NR48)
T114I (p.Thr114Ile) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
T114I (p.Thr114Ile) variant details
- p.Thr114Ile
- Ensembl rs2148842973
- Missense
- REVEL 0.35
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)