D64H (p.Asp64His) variant of COL3A1 (Collagen alpha-1(III) chain)
D64H (p.Asp64His) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D64H (p.Asp64His) variant details
- p.Asp64His
- Ensembl rs1688031667
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.49
- MetaLR 0.46
- MetaSVM -0.10
- CADD 29.40
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available