H8R (p.His8Arg) variant of SETD1B (Q9UPS6)
H8R (p.His8Arg) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H8R (p.His8Arg) variant details
- p.His8Arg
- gnomAD 12-121804760-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.29
- ESM-1b 0.09
- AlphaMissense 0.22
- CADD 17.20
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available