P67H (p.Pro67His) variant of NOTCH2 (Q04721)
P67H (p.Pro67His) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P67H (p.Pro67His) variant details
- p.Pro67His
- ExAC rs781921948
- gnomAD rs781921948
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.70
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available