D111N (p.Asp111Asn) variant of COL2A1 (Collagen alpha-1(II) chain)
D111N (p.Asp111Asn) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D111N (p.Asp111Asn) variant details
- p.Asp111Asn
- gnomAD rs1260264802
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.19
- SIFT 0.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available