P59S (p.Pro59Ser) variant of NOTCH3 (Q9UM47)
P59S (p.Pro59Ser) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- Ensembl rs2145451112
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.36
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available