S85T (p.Ser85Thr) variant of NIPBL (Nipped-B-like protein)
S85T (p.Ser85Thr) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S85T (p.Ser85Thr) variant details
- p.Ser85Thr
- gnomAD rs1253388106
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 22.40
- PolyPhen-2 0.40
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available