F39L (p.Phe39Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
F39L (p.Phe39Leu) 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; Bethlem myopathy 1A. 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.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- cosmic curated COSV10072
- TOPMed rs767395722
- gnomAD rs767395722
- Uncertain significance
- Inborn genetic diseases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.36
- CADD 24.10
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Bethlem myopathy 1A)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available