D78N (p.Asp78Asn) variant of COL5A2 (Collagen alpha-2(V) chain)
D78N (p.Asp78Asn) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D78N (p.Asp78Asn) variant details
- p.Asp78Asn
- TOPMed rs1184124995
- gnomAD rs1184124995
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.16
- CADD 22.80
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available