W29R (p.Trp29Arg) variant of SETD1B (Q9UPS6)
W29R (p.Trp29Arg) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
W29R (p.Trp29Arg) variant details
- p.Trp29Arg
- gnomAD rs1875643602
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 1.00
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available