N42H (p.Asn42His) variant of ASH1L (Q9NR48)
N42H (p.Asn42His) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
N42H (p.Asn42His) variant details
- p.Asn42His
- gnomAD rs1384072053
- Missense
- REVEL 0.21
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)