L10S (p.Leu10Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
L10S (p.Leu10Ser) in COL1A2 (Collagen alpha-2(I) 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; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L10S (p.Leu10Ser) variant details
- p.Leu10Ser
- ExAC rs758795377
- TOPMed rs758795377
- gnomAD rs758795377
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.59
- CADD 23.40
- PolyPhen-2 0.13
- SIFT 0.26
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available