N43D (p.Asn43Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
N43D (p.Asn43Asp) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N43D (p.Asn43Asp) variant details
- p.Asn43Asp
- gnomAD rs1281479790
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available