H11R (p.His11Arg) variant of SETD1B (Q9UPS6)
H11R (p.His11Arg) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H11R (p.His11Arg) variant details
- p.His11Arg
- ExAC rs771290613
- gnomAD rs771290613
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.29
- ESM-1b 0.31
- AlphaMissense 0.29
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available