M8V (p.Met8Val) variant of ASH1L (Q9NR48)
M8V (p.Met8Val) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
M8V (p.Met8Val) variant details
- p.Met8Val
- ExAC rs777411239
- gnomAD rs777411239
- Missense
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)