C56Y (p.Cys56Tyr) variant of NIPBL (Nipped-B-like protein)
C56Y (p.Cys56Tyr) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C56Y (p.Cys56Tyr) variant details
- p.Cys56Tyr
- gnomAD 5-36955574-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.78
- ESM-1b 0.00
- AlphaMissense 0.77
- CADD 24.20
- PolyPhen-2 0.46
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available