S18R (p.Ser18Arg) variant of NIPBL (Nipped-B-like protein)
S18R (p.Ser18Arg) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S18R (p.Ser18Arg) variant details
- p.Ser18Arg
- gnomAD 5-36953750-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 1.00
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available