R100C (p.Arg100Cys) variant of FERMT1 (Fermitin family homolog 1)
R100C (p.Arg100Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R100C (p.Arg100Cys) variant details
- p.Arg100Cys
- rs914756695
- ClinGen CA311232632
- ClinVar RCV002720927
- TOPMed rs914756695
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.18
- CADD 26.80
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in KNDLRS)
- UniProt: Uncertain significance (in KNDLRS)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available