P31S (p.Pro31Ser) variant of NIPBL (Nipped-B-like protein)
P31S (p.Pro31Ser) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- gnomAD 5-36955498-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available