S2S (p.Ser2Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
S2S (p.Ser2Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- rs1385822999
- gnomAD 2-227164732-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 8.82
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available