R110* (p.Arg110Ter) variant of FERMT1 (Fermitin family homolog 1)
R110* (p.Arg110Ter) in FERMT1 (Fermitin family homolog 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R110* (p.Arg110Ter) variant details
- p.Arg110Ter
- rs765716291
- ClinGen CA9758489
- NCI-TCGA Cosmic COSV5409
- ClinVar RCV001783270
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Kindler Syndrome. (PMID 26937547)