P44S (p.Pro44Ser) variant of SETD2 (Q9BYW2)
P44S (p.Pro44Ser) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- TOPMed rs1257544813
- gnomAD rs1257544813
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.48
- CADD 22.60
- PolyPhen-2 0.92
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.0174