P62L (p.Pro62Leu) variant of NOTCH1 (P46531)
P62L (p.Pro62Leu) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- ExAC rs749947050
- gnomAD rs749947050
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available