V86D (p.Val86Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
V86D (p.Val86Asp) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V86D (p.Val86Asp) variant details
- p.Val86Asp
- gnomAD rs1468398211
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available