D21N (p.Asp21Asn) variant of COL6A1 (Collagen alpha-1(VI) chain)
D21N (p.Asp21Asn) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D21N (p.Asp21Asn) variant details
- p.Asp21Asn
- gnomAD 21-45981911-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.21
- MetaLR 0.40
- MetaSVM -0.22
- CADD 20.50
- PolyPhen-2 0.35
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available