A58A (p.Ala58Ala) variant of SETD1B (Q9UPS6)
A58A (p.Ala58Ala) in SETD1B (Q9UPS6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A58A (p.Ala58Ala) variant details
- p.Ala58Ala
- rs1451088806
- gnomAD 12-121804911-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 23.20
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available