M59L (p.Met59Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
M59L (p.Met59Leu) in COL6A2 (Collagen alpha-2(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 0.37 / 1. The record also includes population frequency data and structural context.
M59L (p.Met59Leu) variant details
- p.Met59Leu
- rs914450923
- ClinGen CA321957144
- ClinVar RCV001771535
- Ensembl rs914450923
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.24
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available