T45I (p.Thr45Ile) variant of KRT14 (Keratin, type I cytoskeletal 14)
T45I (p.Thr45Ile) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T45I (p.Thr45Ile) variant details
- p.Thr45Ile
- rs201931536
- ClinGen CA8562810
- ClinVar RCV002885835
- 1000Genomes rs201931536
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.13
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0084)
- Structural context available