N22D (p.Asn22Asp) variant of FERMT1 (Fermitin family homolog 1)
N22D (p.Asn22Asp) 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 Kindler syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
N22D (p.Asn22Asp) variant details
- p.Asn22Asp
- rs201029402
- ClinGen CA9758557
- ClinVar RCV000322283
- ClinVar RCV001861169
- Uncertain significance
- Kindler syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0681
- REVEL 0.03
- CADD 6.68
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Kindler syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Kindler Syndrome. (PMID 26937547)