L8P (p.Leu8Pro) variant of COL6A1 (Collagen alpha-1(VI) chain)
L8P (p.Leu8Pro) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- 1000Genomes rs543400339
- ExAC rs543400339
- gnomAD rs543400339
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.59
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the 1KG:ITU population (allele frequency 0.0099)
- Structural context available