E38D (p.Glu38Asp) variant of COL5A2 (Collagen alpha-2(V) chain)
E38D (p.Glu38Asp) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E38D (p.Glu38Asp) variant details
- p.Glu38Asp
- TOPMed rs1687238762
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.23
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available