T22N (p.Thr22Asn) variant of SETD2 (Q9BYW2)
T22N (p.Thr22Asn) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T22N (p.Thr22Asn) variant details
- p.Thr22Asn
- ExAC rs769869483
- gnomAD rs769869483
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.35
- AlphaMissense 0.08
- MetaLR 0.37
- MetaSVM -0.64
- CADD 24.20
- PolyPhen-2 0.01
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.853