G3R (p.Gly3Arg) variant of NIPBL (Nipped-B-like protein)
G3R (p.Gly3Arg) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- gnomAD 5-36953703-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 1.00
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available