P104A (p.Pro104Ala) variant of NIPBL (Nipped-B-like protein)
P104A (p.Pro104Ala) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P104A (p.Pro104Ala) variant details
- p.Pro104Ala
- rs772009624
- ClinGen CA3235781
- ClinVar RCV001868356
- ClinVar RCV002318083
- Uncertain significance
- Inborn genetic diseases; Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.85
- ESM-1b 0.00
- AlphaMissense 0.70
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00031)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)