A58V (p.Ala58Val) variant of SETD1B (Q9UPS6)
A58V (p.Ala58Val) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- TOPMed rs973837174
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.51
- CADD 28.80
- PolyPhen-2 0.74
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available