R98C (p.Arg98Cys) variant of FERMT1 (Fermitin family homolog 1)
R98C (p.Arg98Cys) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Kindler syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R98C (p.Arg98Cys) variant details
- p.Arg98Cys
- rs141690919
- ClinGen CA9758497
- ClinVar RCV001910065
- ClinVar RCV005397143
- Uncertain significance
- not provided; Kindler syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.18
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Kindler syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Kindler Syndrome. (PMID 26937547)