R27S (p.Arg27Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
R27S (p.Arg27Ser) in COL6A1 (Collagen alpha-1(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 0.38 / 1. The record also includes population frequency data.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- TOPMed rs2077709388
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.26
- CADD 11.20
- PolyPhen-2 0.19
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available