D4H (p.Asp4His) variant of NIPBL (Nipped-B-like protein)
D4H (p.Asp4His) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D4H (p.Asp4His) variant details
- p.Asp4His
- gnomAD 5-36953706-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 1.00
- CADD 27.30
- 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