P23L (p.Pro23Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
P23L (p.Pro23Leu) in COL6A1 (Collagen alpha-1(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 0.12 / 1. The record also includes population frequency data and published literature.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs775946362
- ClinGen CA10069430
- ClinVar RCV001217320
- ClinVar RCV002561922
- Conflicting interpretations
- Inborn genetic diseases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.13
- CADD 5.79
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Bethlem myopathy 1A)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)