P44L (p.Pro44Leu) variant of SETD2 (Q9BYW2)
P44L (p.Pro44Leu) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- TOPMed rs1311481935
- gnomAD rs1311481935
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.62
- CADD 21.70
- PolyPhen-2 0.10
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.0174