D64N (p.Asp64Asn) variant of COL3A1 (Collagen alpha-1(III) chain)
D64N (p.Asp64Asn) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D64N (p.Asp64Asn) variant details
- p.Asp64Asn
- gnomAD 2-188984870-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.28
- MetaLR 0.31
- MetaSVM -0.48
- CADD 25.90
- PolyPhen-2 0.42
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available