P6P (p.Pro6Pro) variant of SETD1B (Q9UPS6)
P6P (p.Pro6Pro) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P6P (p.Pro6Pro) variant details
- p.Pro6Pro
- rs748729469
- gnomAD 12-121804755-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 14.50
- Most common in the South Asian population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available