S103N (p.Ser103Asn) variant of NIPBL (Nipped-B-like protein)
S103N (p.Ser103Asn) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S103N (p.Ser103Asn) variant details
- p.Ser103Asn
- gnomAD 5-36958181-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available