Q5R (p.Gln5Arg) variant of SETD2 (Q9BYW2)
Q5R (p.Gln5Arg) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- Ensembl rs1575863515
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.17
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.0662