R30S (p.Arg30Ser) variant of SETD1B (Q9UPS6)
R30S (p.Arg30Ser) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- gnomAD 12-121804827-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 1.00
- CADD 24.00
- PolyPhen-2 0.80
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available