Q65R (p.Gln65Arg) variant of FERMT1 (Fermitin family homolog 1)
Q65R (p.Gln65Arg) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q65R (p.Gln65Arg) variant details
- p.Gln65Arg
- gnomAD rs1983087393
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.12
- CADD 25.10
- PolyPhen-2 0.49
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available