Q64K (p.Gln64Lys) variant of NIPBL (Nipped-B-like protein)
Q64K (p.Gln64Lys) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q64K (p.Gln64Lys) variant details
- p.Gln64Lys
- gnomAD 5-36955597-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.61
- CADD 24.70
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available