G107A (p.Gly107Ala) variant of KRT1 (Keratin, type II cytoskeletal 1)
G107A (p.Gly107Ala) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G107A (p.Gly107Ala) variant details
- p.Gly107Ala
- rs767433585
- ClinGen CA6586461
- ClinVar RCV002754522
- ExAC rs767433585
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.42
- CADD 8.43
- PolyPhen-2 0.06
- SIFT 0.25
- 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)