D68H (p.Asp68His) variant of COL3A1 (Collagen alpha-1(III) chain)
D68H (p.Asp68His) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D68H (p.Asp68His) variant details
- p.Asp68His
- gnomAD 2-188984882-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.30
- MetaLR 0.34
- MetaSVM -0.38
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available