I88V (p.Ile88Val) variant of COL2A1 (Collagen alpha-1(II) chain)
I88V (p.Ile88Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; COL2A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I88V (p.Ile88Val) variant details
- p.Ile88Val
- rs760745824
- ClinGen CA6536065
- ClinVar RCV001921095
- ClinVar RCV004529047
- Conflicting interpretations
- Inborn genetic diseases; not provided; COL2A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.11
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; COL2A1-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)