Q44E (p.Gln44Glu) variant of FLCN (Folliculin)
Q44E (p.Gln44Glu) in FLCN (Folliculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q44E (p.Gln44Glu) variant details
- p.Gln44Glu
- Ensembl rs2145045849
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.38
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available