R32G (p.Arg32Gly) variant of FERMT1 (Fermitin family homolog 1)
R32G (p.Arg32Gly) 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 0.30 / 1. The record also includes population frequency data and structural context.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- rs766072646
- ClinGen CA9758550
- ClinVar RCV002785544
- ExAC rs766072646
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.33
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available