A14G (p.Ala14Gly) variant of NIPBL (Nipped-B-like protein)
A14G (p.Ala14Gly) 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.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- gnomAD 5-36953737-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available