P41T (p.Pro41Thr) variant of NOTCH3 (Q9UM47)
P41T (p.Pro41Thr) in NOTCH3 (Q9UM47) is a missense change. 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.
P41T (p.Pro41Thr) variant details
- p.Pro41Thr
- TOPMed rs2046978928
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.27
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available