L14P (p.Leu14Pro) variant of FERMT1 (Fermitin family homolog 1)
L14P (p.Leu14Pro) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- TOPMed rs999728597
- gnomAD rs999728597
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.79
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available