L4V (p.Leu4Val) variant of SETD2 (Q9BYW2)
L4V (p.Leu4Val) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- Ensembl rs2106868717
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.22
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.0455