N37S (p.Asn37Ser) variant of NOTCH2 (Q04721)
N37S (p.Asn37Ser) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N37S (p.Asn37Ser) variant details
- p.Asn37Ser
- ExAC rs782653854
- gnomAD rs782653854
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.55
- CADD 25.60
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available