S47P (p.Ser47Pro) variant of COL6A3 (Collagen alpha-3(VI) chain)
S47P (p.Ser47Pro) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S47P (p.Ser47Pro) variant details
- p.Ser47Pro
- ExAC rs751569819
- gnomAD rs751569819
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.93
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.50
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available