H67H (p.His67His) variant of NIPBL (Nipped-B-like protein)
H67H (p.His67His) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H67H (p.His67His) variant details
- p.His67His
- gnomAD 5-36955608-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 8.24
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available