E13K (p.Glu13Lys) variant of FERMT1 (Fermitin family homolog 1)
E13K (p.Glu13Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs1177117470
- ClinGen CA408195669
- ClinVar RCV002833213
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.19
- CADD 20.60
- PolyPhen-2 0.37
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available