R63H (p.Arg63His) variant of SETD1B (Q9UPS6)
R63H (p.Arg63His) 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 and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- gnomAD rs1875663921
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 24.50
- PolyPhen-2 0.86
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available