P88A (p.Pro88Ala) variant of NIPBL (Nipped-B-like protein)
P88A (p.Pro88Ala) 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.
P88A (p.Pro88Ala) variant details
- p.Pro88Ala
- gnomAD 5-36958135-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.72
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available