R140L (p.Arg140Leu) variant of ASH1L (Q9NR48)
R140L (p.Arg140Leu) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
R140L (p.Arg140Leu) variant details
- p.Arg140Leu
- ESP rs368390442
- ExAC rs368390442
- TOPMed rs368390442
- gnomAD rs368390442
- Likely benign
- not provided
- Missense
- REVEL 0.25
- CADD 24.80
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)