P28R (p.Pro28Arg) variant of NOTCH3 (Q9UM47)
P28R (p.Pro28Arg) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- rs750802043
- ClinGen CA404483537
- ClinVar RCV003837172
- ExAC rs750802043
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.43
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-06)
- Structural context available