Y145H (p.Tyr145His) variant of FERMT1 (Fermitin family homolog 1)
Y145H (p.Tyr145His) 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 0.24 / 1. The record also includes population frequency data and structural context.
Y145H (p.Tyr145His) variant details
- p.Tyr145His
- TOPMed rs1230840491
- gnomAD rs1230840491
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.07
- CADD 23.20
- PolyPhen-2 0.70
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available