E24K (p.Glu24Lys) variant of FERMT1 (Fermitin family homolog 1)
E24K (p.Glu24Lys) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- 1000Genomes rs151287434
- ExAC rs151287434
- gnomAD rs151287434
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.04
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available