V35L (p.Val35Leu) variant of SETD2 (Q9BYW2)
V35L (p.Val35Leu) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V35L (p.Val35Leu) variant details
- p.Val35Leu
- gnomAD rs868820087
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.20
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.489