S36S (p.Ser36Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
S36S (p.Ser36Ser) in COL4A5 (Collagen alpha-5(IV) 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.
S36S (p.Ser36Ser) variant details
- p.Ser36Ser
- rs1164696602
- gnomAD X-108539772-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 11.30
- Most common in the Non-Finnish European population (allele frequency 7.5e-05)
- Structural context available
- Literature evidence available