I29N (p.Ile29Asn) variant of COL4A4 (Collagen alpha-4(IV) chain)
I29N (p.Ile29Asn) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I29N (p.Ile29Asn) variant details
- p.Ile29Asn
- TOPMed rs2063420678
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.47
- CADD 23.00
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available