P23S (p.Pro23Ser) variant of NOTCH3 (Q9UM47)
P23S (p.Pro23Ser) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- gnomAD rs1350683833
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.22
- CADD 6.95
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available