D66N (p.Asp66Asn) variant of COL2A1 (Collagen alpha-1(II) chain)
D66N (p.Asp66Asn) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D66N (p.Asp66Asn) variant details
- p.Asp66Asn
- rs976006680
- ClinGen CA236494906
- NCI-TCGA Cosmic COSV6153
- ClinVar RCV001325892
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.18
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available