N36del (p.Asn36del) variant of COL6A2 (Collagen alpha-2(VI) chain)
N36del (p.Asn36del) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
N36del (p.Asn36del) variant details
- rs754701639
- gnomAD 21-46111575-AAAC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available