T99I (p.Thr99Ile) variant of COL5A2 (Collagen alpha-2(V) chain)
T99I (p.Thr99Ile) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T99I (p.Thr99Ile) variant details
- p.Thr99Ile
- rs773743633
- ClinGen CA2023161
- ClinVar RCV003012129
- ExAC rs773743633
- Likely benign
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.30
- CADD 22.20
- PolyPhen-2 0.80
- SIFT 0.49
- ClinVar: Likely benign (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)