R14Q (p.Arg14Gln) variant of COL4A4 (Collagen alpha-4(IV) chain)
R14Q (p.Arg14Gln) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- rs750682352
- gnomAD 2-227010413-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0707
- CADD 1.16
- SIFT 0.52
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available