N34D (p.Asn34Asp) variant of COL6A2 (Collagen alpha-2(VI) chain)
N34D (p.Asn34Asp) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N34D (p.Asn34Asp) variant details
- p.Asn34Asp
- TOPMed rs1388669559
- gnomAD rs1388669559
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.07
- CADD 11.30
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available