D34E (p.Asp34Glu) variant of COL1A1 (Collagen alpha-1(I) chain)
D34E (p.Asp34Glu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- TOPMed rs1908083443
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.80
- PolyPhen-2 0.19
- SIFT 0.06
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available