R100H (p.Arg100His) variant of FERMT1 (Fermitin family homolog 1)
R100H (p.Arg100His) 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 0.34 / 1. The record also includes population frequency data and structural context.
R100H (p.Arg100His) variant details
- p.Arg100His
- rs146184803
- ClinGen CA9758494
- ClinVar RCV001916272
- ESP rs146184803
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.15
- CADD 24.10
- PolyPhen-2 0.87
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in KNDLRS)
- UniProt: Uncertain significance (in KNDLRS)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available