E64K (p.Glu64Lys) variant of FERMT1 (Fermitin family homolog 1)
E64K (p.Glu64Lys) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- Ensembl rs2123150767
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.39
- CADD 24.40
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available