K42N (p.Lys42Asn) variant of SETD1B (Q9UPS6)
K42N (p.Lys42Asn) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- gnomAD 12-121804863-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 24.40
- PolyPhen-2 0.40
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available