P42A (p.Pro42Ala) variant of NOTCH3 (Q9UM47)
P42A (p.Pro42Ala) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P42A (p.Pro42Ala) variant details
- p.Pro42Ala
- 1000Genomes rs372995747
- ESP rs372995747
- ExAC rs372995747
- TOPMed rs372995747
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.26
- CADD 15.10
- PolyPhen-2 0.05
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available