V94I (p.Val94Ile) variant of NIPBL (Nipped-B-like protein)
V94I (p.Val94Ile) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V94I (p.Val94Ile) variant details
- p.Val94Ile
- gnomAD 5-36958153-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available