N22S (p.Asn22Ser) variant of FERMT1 (Fermitin family homolog 1)
N22S (p.Asn22Ser) 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 0.04 / 1. The record also includes population frequency data and structural context.
N22S (p.Asn22Ser) variant details
- p.Asn22Ser
- ESP rs368952038
- ExAC rs368952038
- TOPMed rs368952038
- gnomAD rs368952038
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0383
- REVEL 0.02
- CADD 0.92
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available