D96A (p.Asp96Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
D96A (p.Asp96Ala) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D96A (p.Asp96Ala) variant details
- p.Asp96Ala
- Ensembl rs2125036550
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.36
- CADD 23.20
- PolyPhen-2 0.57
- SIFT 0.42
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available