N156S (p.Asn156Ser) variant of FERMT1 (Fermitin family homolog 1)
N156S (p.Asn156Ser) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Kindler syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
N156S (p.Asn156Ser) variant details
- p.Asn156Ser
- rs138019177
- ClinGen CA9758457
- ClinVar RCV000310894
- ClinVar RCV000958036
- Benign
- Kindler syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.05
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Benign (Kindler syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Kindler Syndrome. (PMID 26937547)