P62Q (p.Pro62Gln) variant of NOTCH1 (P46531)
P62Q (p.Pro62Gln) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P62Q (p.Pro62Gln) variant details
- p.Pro62Gln
- ExAC rs749947050
- gnomAD rs749947050
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available