H58N (p.His58Asn) variant of COL4A5 (Collagen alpha-5(IV) chain)
H58N (p.His58Asn) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H58N (p.His58Asn) variant details
- p.His58Asn
- gnomAD X-108559094-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.43
- CADD 17.20
- PolyPhen-2 0.21
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available