V72A (p.Val72Ala) variant of NIPBL (Nipped-B-like protein)
V72A (p.Val72Ala) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V72A (p.Val72Ala) variant details
- p.Val72Ala
- rs2478987527
- ClinGen CA359474482
- ClinVar RCV002467019
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 26.70
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available