G175D (p.Gly175Asp) variant of FERMT1 (Fermitin family homolog 1)
G175D (p.Gly175Asp) 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 0.38 / 1. The record also includes population frequency data and structural context.
G175D (p.Gly175Asp) variant details
- p.Gly175Asp
- rs755393121
- ClinGen CA9758450
- ClinVar RCV001921066
- ExAC rs755393121
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.24
- CADD 15.90
- PolyPhen-2 0.07
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available