I160T (p.Ile160Thr) variant of FERMT1 (Fermitin family homolog 1)
I160T (p.Ile160Thr) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I160T (p.Ile160Thr) variant details
- p.Ile160Thr
- rs16991866
- ClinGen CA9758456
- ClinVar RCV000402388
- ClinVar RCV001522483
- Benign
- Kindler syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.09
- CADD 16.30
- PolyPhen-2 0.03
- SIFT 0.61
- ClinVar: Benign (Kindler syndrome; not specified; not provided)
- EBI: Benign (in dbSNP:rs16991866)
- UniProt: Benign (in dbSNP:rs16991866)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Kindler Syndrome. (PMID 26937547)