N22I (p.Asn22Ile) variant of FERMT1 (Fermitin family homolog 1)
N22I (p.Asn22Ile) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
N22I (p.Asn22Ile) variant details
- p.Asn22Ile
- ESP rs368952038
- ExAC rs368952038
- TOPMed rs368952038
- gnomAD rs368952038
- Missense
- Variant Prioritization Score for Impact Estimate 0.0992
- REVEL 0.08
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available