S13P (p.Ser13Pro) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
S13P (p.Ser13Pro) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S13P (p.Ser13Pro) variant details
- p.Ser13Pro
- ExAC rs766377475
- gnomAD rs766377475
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.02
- MetaSVM -1.00
- CADD 21.50
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.608