E43G (p.Glu43Gly) variant of FLCN (Folliculin)
E43G (p.Glu43Gly) in FLCN (Folliculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E43G (p.Glu43Gly) variant details
- p.Glu43Gly
- Ensembl rs2145045990
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available