P16R (p.Pro16Arg) variant of SETD1B (Q9UPS6)
P16R (p.Pro16Arg) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P16R (p.Pro16Arg) variant details
- p.Pro16Arg
- gnomAD 12-121804784-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.30
- ESM-1b 0.11
- AlphaMissense 0.33
- CADD 23.70
- PolyPhen-2 0.43
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available