E49D (p.Glu49Asp) variant of FLCN (Folliculin)
E49D (p.Glu49Asp) in FLCN (Folliculin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- gnomAD rs2047308403
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.36
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.25
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available