D124E (p.Asp124Glu) variant of KRT14 (Keratin, type I cytoskeletal 14)
D124E (p.Asp124Glu) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dermatopathia pigmentosa reticularis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
D124E (p.Asp124Glu) variant details
- p.Asp124Glu
- rs752374133
- ClinGen CA399482522
- ClinVar RCV002249091
- ExAC rs752374133
- Likely pathogenic
- Dermatopathia pigmentosa reticularis
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.83
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Likely pathogenic (Dermatopathia pigmentosa reticularis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available