P7S (p.Pro7Ser) variant of SETD1B (Q9UPS6)
P7S (p.Pro7Ser) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- gnomAD rs1373777370
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available