P9A (p.Pro9Ala) variant of NIPBL (Nipped-B-like protein)
P9A (p.Pro9Ala) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P9A (p.Pro9Ala) variant details
- p.Pro9Ala
- gnomAD 5-36953721-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 1.00
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available