G51A (p.Gly51Ala) variant of KRT1 (Keratin, type II cytoskeletal 1)
G51A (p.Gly51Ala) 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 0.63 / 1. The record also includes published literature and structural context.
G51A (p.Gly51Ala) variant details
- p.Gly51Ala
- rs137920159
- ClinGen CA384976639
- ClinVar RCV004412164
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.49
- MetaLR 0.80
- MetaSVM 0.31
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)