P3L (p.Pro3Leu) variant of NOTCH3 (Q9UM47)
P3L (p.Pro3Leu) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- TOPMed rs1214845572
- gnomAD rs1214845572
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- UniProt: Conflicting interpretations
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available