P23L (p.Pro23Leu) variant of ASH1L (Q9NR48)
P23L (p.Pro23Leu) in ASH1L (Q9NR48) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- TOPMed rs908343803
- gnomAD rs908343803
- Uncertain significance
- Missense
- REVEL 0.28
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)