P20P (p.Pro20Pro) variant of SETD1B (Q9UPS6)
P20P (p.Pro20Pro) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P20P (p.Pro20Pro) variant details
- p.Pro20Pro
- rs1592972638
- gnomAD 12-121804797-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 14.70
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available