S56R (p.Ser56Arg) variant of SETD1B (Q9UPS6)
S56R (p.Ser56Arg) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S56R (p.Ser56Arg) variant details
- p.Ser56Arg
- gnomAD 12-121804905-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available