S13A (p.Ser13Ala) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S13A (p.Ser13Ala) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S13A (p.Ser13Ala) variant details
- p.Ser13Ala
- gnomAD 18-58044697-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.08
- CADD 19.80
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.608
- Literature evidence available