G16D (p.Gly16Asp) variant of COL5A1 (Collagen alpha-1(V) chain)
G16D (p.Gly16Asp) in COL5A1 (Collagen alpha-1(V) 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.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- TOPMed rs1318617654
- gnomAD rs1318617654
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.29
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available