K66R (p.Lys66Arg) variant of FERMT1 (Fermitin family homolog 1)
K66R (p.Lys66Arg) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K66R (p.Lys66Arg) variant details
- p.Lys66Arg
- TOPMed rs1286838323
- gnomAD rs1286838323
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.06
- CADD 22.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available