A103S (p.Ala103Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
A103S (p.Ala103Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A103S (p.Ala103Ser) variant details
- p.Ala103Ser
- gnomAD rs1400862810
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.21
- CADD 16.40
- PolyPhen-2 0.39
- SIFT 0.37
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available