P8A (p.Pro8Ala) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
P8A (p.Pro8Ala) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- rs2081514075
- gnomAD 18-58045081-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 18.00
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.227
- Literature evidence available