L5R (p.Leu5Arg) variant of DCC (Netrin receptor DCC)
L5R (p.Leu5Arg) in DCC (Netrin receptor DCC) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L5R (p.Leu5Arg) variant details
- p.Leu5Arg
- gnomAD 18-52340801-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -0.89
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available