S56G (p.Ser56Gly) variant of SETD1B (Q9UPS6)
S56G (p.Ser56Gly) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S56G (p.Ser56Gly) variant details
- p.Ser56Gly
- gnomAD 12-121804903-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.60
- CADD 27.10
- PolyPhen-2 0.73
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available