R74Q (p.Arg74Gln) variant of COL4A5 (Collagen alpha-5(IV) chain)
R74Q (p.Arg74Gln) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- rs137930367
- ClinGen CA10488381
- ClinVar RCV001447531
- ClinVar RCV004611827
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.15
- MetaLR 0.49
- MetaSVM -0.56
- CADD 6.41
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00043)
- 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)