P2S (p.Pro2Ser) variant of NOTCH2 (Q04721)
P2S (p.Pro2Ser) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- ExAC rs782173854
- gnomAD rs782173854
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.39
- CADD 25.80
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available