S53T (p.Ser53Thr) variant of FERMT1 (Fermitin family homolog 1)
S53T (p.Ser53Thr) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
S53T (p.Ser53Thr) variant details
- p.Ser53Thr
- ExAC rs747990571
- TOPMed rs747990571
- gnomAD rs747990571
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0475
- REVEL 0.04
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available