G107S (p.Gly107Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G107S (p.Gly107Ser) in KRT6A (Keratin, type II cytoskeletal 6A) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G107S (p.Gly107Ser) variant details
- p.Gly107Ser
- rs749357737
- ClinGen CA6582302
- NCI-TCGA Cosmic COSV5810
- ClinVar RCV002659904
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.22
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)