R45G (p.Arg45Gly) variant of NIPBL (Nipped-B-like protein)
R45G (p.Arg45Gly) 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.
R45G (p.Arg45Gly) variant details
- p.Arg45Gly
- gnomAD 5-36955540-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.80
- ESM-1b 0.00
- AlphaMissense 0.69
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available