D34V (p.Asp34Val) variant of COL1A1 (Collagen alpha-1(I) chain)
D34V (p.Asp34Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D34V (p.Asp34Val) variant details
- p.Asp34Val
- TOPMed rs1287910094
- gnomAD rs1287910094
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 32.00
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available