P111A (p.Pro111Ala) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
P111A (p.Pro111Ala) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P111A (p.Pro111Ala) variant details
- p.Pro111Ala
- TOPMed rs1265428529
- gnomAD rs1265428529
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.60
- MetaSVM 0.19
- CADD 25.40
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available