T59N (p.Thr59Asn) variant of SETD2 (Q9BYW2)
T59N (p.Thr59Asn) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
T59N (p.Thr59Asn) variant details
- p.Thr59Asn
- Ensembl rs2106728498
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.35
- CADD 23.10
- PolyPhen-2 0.31
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.8e-05)