M5R (p.Met5Arg) variant of NIPBL (Nipped-B-like protein)
M5R (p.Met5Arg) 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 and structural context.
M5R (p.Met5Arg) variant details
- p.Met5Arg
- ExAC rs764272515
- TOPMed rs764272515
- gnomAD rs764272515
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 27.60
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available