M5I (p.Met5Ile) variant of NIPBL (Nipped-B-like protein)
M5I (p.Met5Ile) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M5I (p.Met5Ile) variant details
- p.Met5Ile
- gnomAD 5-36953711-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 23.80
- PolyPhen-2 0.84
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available