P7P (p.Pro7Pro) variant of SETD1B (Q9UPS6)
P7P (p.Pro7Pro) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P7P (p.Pro7Pro) variant details
- p.Pro7Pro
- rs1242193997
- gnomAD 12-121804758-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 14.20
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available