Q13K (p.Gln13Lys) variant of SETD1B (Q9UPS6)
Q13K (p.Gln13Lys) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q13K (p.Gln13Lys) variant details
- p.Gln13Lys
- gnomAD 12-121804774-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.17
- ESM-1b 0.47
- AlphaMissense 0.36
- CADD 21.10
- PolyPhen-2 0.05
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available