P8A (p.Pro8Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
P8A (p.Pro8Ala) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- rs144189491
- ClinGen CA2189970
- ClinVar RCV003632507
- ClinVar RCV005323543
- Conflicting interpretations
- Inborn genetic diseases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.34
- MetaLR 0.76
- MetaSVM 0.11
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)