T56P (p.Thr56Pro) variant of NOTCH3 (Q9UM47)
T56P (p.Thr56Pro) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
T56P (p.Thr56Pro) variant details
- p.Thr56Pro
- Ensembl rs2145451174
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.67
- CADD 24.30
- PolyPhen-2 0.66
- SIFT 0.26
- Most common in the East Asian population (allele frequency 3.9e-05)
- Structural context available