S37A (p.Ser37Ala) variant of VCAN (Versican core protein)
S37A (p.Ser37Ala) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Vitreoretinopathy; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S37A (p.Ser37Ala) variant details
- p.Ser37Ala
- rs142740596
- ClinGen CA3332390
- ClinVar RCV000344353
- ClinVar RCV002061295
- Conflicting interpretations
- not provided; Vitreoretinopathy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.10
- CADD 23.10
- PolyPhen-2 0.91
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not provided; Vitreoretinopathy; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)