P7R (p.Pro7Arg) variant of SETD1B (Q9UPS6)
P7R (p.Pro7Arg) in SETD1B (Q9UPS6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- TOPMed rs1052521826
- gnomAD rs1052521826
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available