P3A (p.Pro3Ala) variant of ASH1L (Q9NR48)
P3A (p.Pro3Ala) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
P3A (p.Pro3Ala) variant details
- p.Pro3Ala
- ExAC rs753406103
- gnomAD rs753406103
- Missense
- REVEL 0.20
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)