P16S (p.Pro16Ser) variant of SETD1B (Q9UPS6)
P16S (p.Pro16Ser) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- gnomAD 12-121804783-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available