S138P (p.Ser138Pro) variant of ASH1L (Q9NR48)
S138P (p.Ser138Pro) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
S138P (p.Ser138Pro) variant details
- p.Ser138Pro
- Ensembl rs2148842680
- Missense
- REVEL 0.37
- CADD 24.70
- PolyPhen-2 0.66
- SIFT 0.04
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)