S97T (p.Ser97Thr) variant of COL5A2 (Collagen alpha-2(V) chain)
S97T (p.Ser97Thr) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S97T (p.Ser97Thr) variant details
- p.Ser97Thr
- rs1193876792
- ClinGen CA349867464
- ClinVar RCV002701450
- gnomAD rs1193876792
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.07
- CADD 14.80
- PolyPhen-2 0.26
- SIFT 0.54
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)