D51H (p.Asp51His) variant of COL4A4 (Collagen alpha-4(IV) chain)
D51H (p.Asp51His) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D51H (p.Asp51His) variant details
- p.Asp51His
- gnomAD rs1489514277
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.59
- CADD 23.00
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available