M119R (p.Met119Arg) variant of KRT14 (Keratin, type I cytoskeletal 14)
M119R (p.Met119Arg) 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 0.93 / 1. The record also includes structural context.
M119R (p.Met119Arg) variant details
- p.Met119Arg
- rs28928893
- ClinGen CA399482585
- ClinVar RCV002249092
- Ensembl rs28928893
- Likely pathogenic
- Dermatopathia pigmentosa reticularis
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Dermatopathia pigmentosa reticularis)
- EBI: Pathogenic (in EBS1B and EBS1C)
- UniProt: Pathogenic (in EBS1B and EBS1C)
- Structural context available