L138F (p.Leu138Phe) variant of FERMT1 (Fermitin family homolog 1)
L138F (p.Leu138Phe) 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 0.62 / 1. The record also includes population frequency data and structural context.
L138F (p.Leu138Phe) variant details
- p.Leu138Phe
- 1000Genomes rs539867893
- ExAC rs539867893
- TOPMed rs539867893
- gnomAD rs539867893
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.60
- CADD 19.90
- PolyPhen-2 0.46
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available