G24E (p.Gly24Glu) variant of KRT10 (Keratin, type I cytoskeletal 10)
G24E (p.Gly24Glu) in KRT10 (Keratin, type I cytoskeletal 10) 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 0.30 / 1. The record also includes population frequency data.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- rs556262610
- ClinGen CA8548376
- ClinVar RCV001358374
- 1000Genomes rs556262610
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.40
- CADD 14.40
- PolyPhen-2 0.89
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)