H76P (p.His76Pro) variant of NIPBL (Nipped-B-like protein)
H76P (p.His76Pro) 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.
H76P (p.His76Pro) variant details
- p.His76Pro
- gnomAD 5-36955634-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.89
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 26.90
- 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