F31L (p.Phe31Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
F31L (p.Phe31Leu) in COL6A1 (Collagen alpha-1(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 0.49 / 1. The record also includes population frequency data and structural context.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- rs753371577
- ClinGen CA410514160
- ClinVar RCV003145732
- ExAC rs753371577
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.44
- CADD 22.60
- PolyPhen-2 0.35
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available