E36D (p.Glu36Asp) variant of FLCN (Folliculin)
E36D (p.Glu36Asp) 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 0.28 / 1. The record also includes population frequency data and structural context.
E36D (p.Glu36Asp) variant details
- p.Glu36Asp
- cosmic curated COSV10806
- TOPMed rs1256048813
- gnomAD rs1256048813
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.19
- CADD 4.16
- PolyPhen-2 0.00
- SIFT 0.71
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available