A16S (p.Ala16Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
A16S (p.Ala16Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD rs1463628237
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.35
- AlphaMissense 0.11
- MetaLR 0.64
- MetaSVM 0.16
- CADD 22.80
- PolyPhen-2 0.98
- Most common in the Non-Finnish European population (allele frequency 9.5e-06)
- Structural context available