N41S (p.Asn41Ser) variant of NOTCH1 (P46531)
N41S (p.Asn41Ser) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N41S (p.Asn41Ser) variant details
- p.Asn41Ser
- ExAC rs778658796
- gnomAD rs778658796
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available