D108E (p.Asp108Glu) variant of KRT14 (Keratin, type I cytoskeletal 14)
D108E (p.Asp108Glu) in KRT14 (Keratin, type I cytoskeletal 14) 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 0.21 / 1. The record also includes population frequency data and structural context.
D108E (p.Asp108Glu) variant details
- p.Asp108Glu
- rs773422606
- ClinGen CA8562742
- ClinVar RCV003870931
- ExAC rs773422606
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.32
- CADD 1.54
- PolyPhen-2 0.06
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available