I161T (p.Ile161Thr) variant of FERMT1 (Fermitin family homolog 1)
I161T (p.Ile161Thr) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar 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 0.09 / 1. The record also includes population frequency data and structural context.
I161T (p.Ile161Thr) variant details
- p.Ile161Thr
- 1000Genomes rs185559251
- ExAC rs185559251
- TOPMed rs185559251
- gnomAD rs185559251
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0912
- REVEL 0.03
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available