R17C (p.Arg17Cys) variant of FERMT1 (Fermitin family homolog 1)
R17C (p.Arg17Cys) 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 0.25 / 1. The record also includes population frequency data and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- rs367672925
- ClinGen CA9758562
- ClinVar RCV001863785
- ESP rs367672925
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.14
- CADD 22.60
- PolyPhen-2 0.59
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available