V36L (p.Val36Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
V36L (p.Val36Leu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- cosmic curated COSV62614
- ExAC rs769258891
- TOPMed rs769258891
- gnomAD rs769258891
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.62
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available