Q36R (p.Gln36Arg) variant of SETD2 (Q9BYW2)
Q36R (p.Gln36Arg) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q36R (p.Gln36Arg) variant details
- p.Gln36Arg
- gnomAD rs1442368577
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.26
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- SETD2 WW domain domainome 1.0: score 0.203