V36V (p.Val36Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
V36V (p.Val36Val) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V36V (p.Val36Val) variant details
- p.Val36Val
- rs1259912974
- gnomAD 21-45982644-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 15.30
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available