R45P (p.Arg45Pro) variant of NIPBL (Nipped-B-like protein)
R45P (p.Arg45Pro) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R45P (p.Arg45Pro) variant details
- p.Arg45Pro
- gnomAD 5-36955541-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.89
- ESM-1b 0.00
- AlphaMissense 0.94
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available