S46F (p.Ser46Phe) variant of COL6A3 (Collagen alpha-3(VI) chain)
S46F (p.Ser46Phe) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S46F (p.Ser46Phe) variant details
- p.Ser46Phe
- rs1345492472
- gnomAD rs1345492472
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.79
- MetaLR 0.76
- MetaSVM 0.21
- CADD 26.70
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available