D78E (p.Asp78Glu) variant of COL5A2 (Collagen alpha-2(V) chain)
D78E (p.Asp78Glu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D78E (p.Asp78Glu) variant details
- p.Asp78Glu
- TOPMed rs1202611195
- gnomAD rs1202611195
- Missense
- Variant Prioritization Score for Impact Estimate 0.0978
- REVEL 0.12
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.045)
- Structural context available