T66I (p.Thr66Ile) variant of NOTCH1 (P46531)
T66I (p.Thr66Ile) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Adams-Oliver syndrome 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T66I (p.Thr66Ile) variant details
- p.Thr66Ile
- rs752133245
- ClinGen CA5342230
- ClinVar RCV001719048
- ClinVar RCV003586204
- Benign/Likely benign
- Adams-Oliver syndrome 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 10.70
- PolyPhen-2 0.17
- SIFT 0.10
- ClinVar: Benign/Likely benign (Adams-Oliver syndrome 5; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available