S68N (p.Ser68Asn) variant of NIPBL (Nipped-B-like protein)
S68N (p.Ser68Asn) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S68N (p.Ser68Asn) variant details
- p.Ser68Asn
- gnomAD rs1386162274
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.84
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available