W20S (p.Trp20Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
W20S (p.Trp20Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
W20S (p.Trp20Ser) variant details
- p.Trp20Ser
- gnomAD rs1283614139
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.32
- MetaLR 0.50
- MetaSVM -0.72
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available