Q54R (p.Gln54Arg) variant of FERMT1 (Fermitin family homolog 1)
Q54R (p.Gln54Arg) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- gnomAD rs1320719158
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.13
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available