R54Q (p.Arg54Gln) variant of ASH1L (Q9NR48)
R54Q (p.Arg54Gln) 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.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs1416735817
- NCI-TCGA Cosmic COSV6420
- cosmic curated COSV64207
- TOPMed rs1416735817
- Uncertain significance
- Missense
- REVEL 0.23
- AlphaMissense 0.25
- MetaLR 0.39
- MetaSVM -0.23
- CADD 21.50
- PolyPhen-2 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)