V12I (p.Val12Ile) variant of COL6A3 (Collagen alpha-3(VI) chain)
V12I (p.Val12Ile) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- rs137910388
- ClinGen CA233847
- ClinVar RCV000153100
- ClinVar RCV000379973
- Benign/Likely benign
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.15
- AlphaMissense 0.07
- MetaLR 0.39
- MetaSVM -0.70
- CADD 0.37
- PolyPhen-2 0.14
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)