H5N (p.His5Asn) variant of COL4A4 (Collagen alpha-4(IV) chain)
H5N (p.His5Asn) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
H5N (p.His5Asn) variant details
- p.His5Asn
- gnomAD rs1212871805
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.16
- CADD 2.85
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available