V57D (p.Val57Asp) variant of DCC (Netrin receptor DCC)
V57D (p.Val57Asp) in DCC (Netrin receptor DCC) 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.
V57D (p.Val57Asp) variant details
- p.Val57Asp
- gnomAD 18-52752132-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.41
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available