H7P (p.His7Pro) variant of NIPBL (Nipped-B-like protein)
H7P (p.His7Pro) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
H7P (p.His7Pro) variant details
- p.His7Pro
- gnomAD 5-36953716-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.97
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available