Q36L (p.Gln36Leu) variant of SETD2 (Q9BYW2)
Q36L (p.Gln36Leu) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q36L (p.Gln36Leu) variant details
- p.Gln36Leu
- gnomAD rs1442368577
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.40
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.03
- 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