I92V (p.Ile92Val) variant of NIPBL (Nipped-B-like protein)
I92V (p.Ile92Val) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I92V (p.Ile92Val) variant details
- p.Ile92Val
- ESP rs373268240
- ExAC rs373268240
- TOPMed rs373268240
- gnomAD rs373268240
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available