L87F (p.Leu87Phe) variant of ASH1L (Q9NR48)
L87F (p.Leu87Phe) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
L87F (p.Leu87Phe) variant details
- p.Leu87Phe
- cosmic curated COSV10529
- ExAC rs747561358
- TOPMed rs747561358
- gnomAD rs747561358
- Likely benign
- not provided
- Missense
- REVEL 0.55
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)