T22S (p.Thr22Ser) variant of SETD2 (Q9BYW2)
T22S (p.Thr22Ser) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T22S (p.Thr22Ser) variant details
- p.Thr22Ser
- Ensembl rs2106868358
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- AlphaMissense 0.11
- MetaLR 0.36
- MetaSVM -0.73
- CADD 23.90
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.853