W29C (p.Trp29Cys) variant of SETD1B (Q9UPS6)
W29C (p.Trp29Cys) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
W29C (p.Trp29Cys) variant details
- p.Trp29Cys
- TOPMed rs1438201003
- gnomAD rs1438201003
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.76
- ESM-1b 0.11
- AlphaMissense 0.98
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available