G89S (p.Gly89Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
G89S (p.Gly89Ser) in KRT16 (Keratin, type I cytoskeletal 16) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G89S (p.Gly89Ser) variant details
- p.Gly89Ser
- rs1284398998
- ClinGen CA399495505
- ClinVar RCV002978559
- TOPMed rs1284398998
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.32
- CADD 9.92
- PolyPhen-2 0.09
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)