D97N (p.Asp97Asn) variant of COL1A1 (Collagen alpha-1(I) chain)
D97N (p.Asp97Asn) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D97N (p.Asp97Asn) variant details
- p.Asp97Asn
- ExAC rs780190493
- gnomAD rs780190493
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.40
- PolyPhen-2 0.07
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available