N3K (p.Asn3Lys) variant of SETD1B (Q9UPS6)
N3K (p.Asn3Lys) 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.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- gnomAD 12-121804746-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.58
- CADD 23.20
- PolyPhen-2 0.19
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available