S18G (p.Ser18Gly) variant of NIPBL (Nipped-B-like protein)
S18G (p.Ser18Gly) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S18G (p.Ser18Gly) variant details
- p.Ser18Gly
- gnomAD rs1286357184
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.63
- CADD 24.10
- PolyPhen-2 0.29
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available