R57K (p.Arg57Lys) variant of NIPBL (Nipped-B-like protein)
R57K (p.Arg57Lys) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R57K (p.Arg57Lys) variant details
- p.Arg57Lys
- gnomAD 5-36955577-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 24.60
- PolyPhen-2 0.93
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available