K31E (p.Lys31Glu) variant of SETD2 (Q9BYW2)
K31E (p.Lys31Glu) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- TOPMed rs919876748
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.45
- CADD 26.80
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.831