F146L (p.Phe146Leu) variant of FERMT1 (Fermitin family homolog 1)
F146L (p.Phe146Leu) in FERMT1 (Fermitin family homolog 1) 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 0.23 / 1. The record also includes population frequency data and structural context.
F146L (p.Phe146Leu) variant details
- p.Phe146Leu
- gnomAD rs1332560904
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.09
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.57
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available