K42R (p.Lys42Arg) variant of SETD1B (Q9UPS6)
K42R (p.Lys42Arg) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- gnomAD 12-121804862-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 24.30
- PolyPhen-2 0.90
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available