P36S (p.Pro36Ser) variant of NOTCH3 (Q9UM47)
P36S (p.Pro36Ser) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- gnomAD rs1199131419
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.28
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.64
- Population evidence available
- Structural context available