V22I (p.Val22Ile) variant of COL5A2 (Collagen alpha-2(V) chain)
V22I (p.Val22Ile) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ehlers-Danlos syndrome, classic type, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V22I (p.Val22Ile) variant details
- p.Val22Ile
- rs746289356
- ClinGen CA2023212
- ClinVar RCV002235112
- ClinVar RCV004773194
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.21
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)