S18L (p.Ser18Leu) variant of COL4A4 (Collagen alpha-4(IV) chain)
S18L (p.Ser18Leu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- rs757955398
- gnomAD 2-227010446-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 2.29
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available