A15V (p.Ala15Val) variant of COL1A1 (Collagen alpha-1(I) chain)
A15V (p.Ala15Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- TOPMed rs1402058581
- gnomAD rs1402058581
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available