T22P (p.Thr22Pro) variant of SETD2 (Q9BYW2)
T22P (p.Thr22Pro) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T22P (p.Thr22Pro) variant details
- p.Thr22Pro
- Ensembl rs2106868358
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.36
- CADD 25.60
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.853