K121M (p.Lys121Met) variant of KRT13 (Keratin, type I cytoskeletal 13)
K121M (p.Lys121Met) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
K121M (p.Lys121Met) variant details
- p.Lys121Met
- rs1905018526
- ClinGen CA399486983
- ClinVar RCV002883642
- TOPMed rs1905018526
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.91
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)