V66A (p.Val66Ala) variant of NIPBL (Nipped-B-like protein)
V66A (p.Val66Ala) 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 0.22 / 1. The record also includes structural context.
V66A (p.Val66Ala) variant details
- p.Val66Ala
- gnomAD rs1429907906
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- ESM-1b 0.00
- AlphaMissense 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available