P9S (p.Pro9Ser) variant of SETD2 (Q9BYW2)
P9S (p.Pro9Ser) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- TOPMed rs1244597073
- gnomAD rs1244597073
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.33
- CADD 20.30
- PolyPhen-2 0.06
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.362