N35N (p.Asn35Asn) variant of COL6A2 (Collagen alpha-2(VI) chain)
N35N (p.Asn35Asn) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N35N (p.Asn35Asn) variant details
- p.Asn35Asn
- gnomAD 21-46111581-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 7.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available