Q12R (p.Gln12Arg) variant of SETD1B (Q9UPS6)
Q12R (p.Gln12Arg) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q12R (p.Gln12Arg) variant details
- p.Gln12Arg
- gnomAD rs1316945004
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available