P81T (p.Pro81Thr) variant of NOTCH3 (Q9UM47)
P81T (p.Pro81Thr) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P81T (p.Pro81Thr) variant details
- p.Pro81Thr
- ExAC rs769161256
- gnomAD rs769161256
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.65
- CADD 21.80
- PolyPhen-2 0.07
- SIFT 0.12
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available