V12F (p.Val12Phe) variant of COL6A3 (Collagen alpha-3(VI) chain)
V12F (p.Val12Phe) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V12F (p.Val12Phe) variant details
- p.Val12Phe
- rs137910388
- ClinGen CA10606358
- ClinVar RCV000321460
- 1000Genomes rs137910388
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.07
- MetaLR 0.39
- MetaSVM -0.70
- PolyPhen-2 0.14
- SIFT 0.10
- MutPred 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available