I30T (p.Ile30Thr) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
I30T (p.Ile30Thr) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I30T (p.Ile30Thr) variant details
- p.Ile30Thr
- gnomAD rs1196933522
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.10
- MetaSVM -0.97
- CADD 20.40
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.358