R8R (p.Arg8Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
R8R (p.Arg8Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- rs1051432500
- gnomAD 2-227164748-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.48
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available