P42T (p.Pro42Thr) variant of NOTCH3 (Q9UM47)
P42T (p.Pro42Thr) 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 0.27 / 1. The record also includes population frequency data and structural context.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- 1000Genomes rs372995747
- ESP rs372995747
- ExAC rs372995747
- TOPMed rs372995747
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.24
- CADD 15.80
- PolyPhen-2 0.10
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available