P16Q (p.Pro16Gln) variant of SETD1B (Q9UPS6)
P16Q (p.Pro16Gln) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P16Q (p.Pro16Gln) variant details
- p.Pro16Gln
- gnomAD 12-121804784-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 25.00
- PolyPhen-2 0.56
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available