V54G (p.Val54Gly) variant of COL4A4 (Collagen alpha-4(IV) chain)
V54G (p.Val54Gly) in COL4A4 (Collagen alpha-4(IV) chain) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V54G (p.Val54Gly) variant details
- p.Val54Gly
- rs537516406
- ClinGen CA2145774
- ClinVar RCV002873126
- 1000Genomes rs537516406
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.32
- CADD 11.60
- PolyPhen-2 0.12
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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)