K62E (p.Lys62Glu) variant of SETD2 (Q9BYW2)
K62E (p.Lys62Glu) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
K62E (p.Lys62Glu) variant details
- p.Lys62Glu
- gnomAD rs1454647589
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.65
- CADD 25.90
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)