G175V (p.Gly175Val) variant of FERMT1 (Fermitin family homolog 1)
G175V (p.Gly175Val) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
G175V (p.Gly175Val) variant details
- p.Gly175Val
- ExAC rs755393121
- TOPMed rs755393121
- gnomAD rs755393121
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.20
- CADD 20.20
- PolyPhen-2 0.45
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available