Q64H (p.Gln64His) variant of NIPBL (Nipped-B-like protein)
Q64H (p.Gln64His) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Q64H (p.Gln64His) variant details
- p.Gln64His
- Ensembl rs769022116
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.78
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available