R6A (p.Arg6Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
R6A (p.Arg6Ala) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R6A (p.Arg6Ala) variant details
- p.Arg6Ala
- gnomAD 9-134642200-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 27.80
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available