D42N (p.Asp42Asn) variant of COL6A2 (Collagen alpha-2(VI) chain)
D42N (p.Asp42Asn) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- ExAC rs754269869
- TOPMed rs754269869
- gnomAD rs754269869
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.24
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available