P351L (p.Pro351Leu) variant of NIPBL (Nipped-B-like protein)
P351L (p.Pro351Leu) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vesicoureteral reflux; Mild intellectual disability; Horseshoe kidney. 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.
P351L (p.Pro351Leu) variant details
- p.Pro351Leu
- rs1743394245
- ClinGen CA359483816
- ClinVar RCV001257266
- Ensembl rs1743394245
- Likely pathogenic
- Vesicoureteral reflux; Mild intellectual disability; Horseshoe kidney
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 25.40
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Likely pathogenic (Vesicoureteral reflux; Mild intellectual disability; Horseshoe k)
- EBI: Likely pathogenic (in CDLS1)
- UniProt: Likely pathogenic (in CDLS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available