N70N (p.Asn70Asn) variant of NIPBL (Nipped-B-like protein)
N70N (p.Asn70Asn) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N70N (p.Asn70Asn) variant details
- p.Asn70Asn
- gnomAD 5-36955617-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 10.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available