P38S (p.Pro38Ser) variant of SETD1B (Q9UPS6)
P38S (p.Pro38Ser) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- gnomAD 12-121804849-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available