E2D (p.Glu2Asp) variant of SETD1B (Q9UPS6)
E2D (p.Glu2Asp) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- Ensembl rs1875634266
- cosmic curated COSV11397
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available