S103G (p.Ser103Gly) variant of NIPBL (Nipped-B-like protein)
S103G (p.Ser103Gly) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S103G (p.Ser103Gly) variant details
- p.Ser103Gly
- gnomAD 5-36958180-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available