P46A (p.Pro46Ala) variant of DCC (Netrin receptor DCC)
P46A (p.Pro46Ala) in DCC (Netrin receptor DCC) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P46A (p.Pro46Ala) variant details
- p.Pro46Ala
- gnomAD 18-52752098-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.49
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available