L14F (p.Leu14Phe) variant of FERMT1 (Fermitin family homolog 1)
L14F (p.Leu14Phe) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- 1000Genomes rs1983207194
- gnomAD rs1983207194
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.50
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available