P137S (p.Pro137Ser) variant of ASH1L (Q9NR48)
P137S (p.Pro137Ser) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
P137S (p.Pro137Ser) variant details
- p.Pro137Ser
- ExAC rs747812661
- TOPMed rs747812661
- gnomAD rs747812661
- Missense
- REVEL 0.21
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 6.2e-05)