G27A (p.Gly27Ala) variant of KRT14 (Keratin, type I cytoskeletal 14)
G27A (p.Gly27Ala) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- rs1159632697
- ClinGen CA399483640
- ClinVar RCV004412196
- ClinVar RCV006483952
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.24
- CADD 17.30
- PolyPhen-2 0.79
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- 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)