R98H (p.Arg98His) variant of FERMT1 (Fermitin family homolog 1)
R98H (p.Arg98His) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Kindler syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R98H (p.Arg98His) variant details
- p.Arg98His
- rs137862671
- ClinGen CA9758496
- ClinVar RCV000882780
- ClinVar RCV001138874
- Likely benign
- Kindler syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.22
- CADD 25.60
- PolyPhen-2 0.88
- SIFT 0.04
- ClinVar: Likely benign (Kindler syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Kindler Syndrome. (PMID 26937547)