A21T (p.Ala21Thr) variant of NOTCH2 (Q04721)
A21T (p.Ala21Thr) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs2603926
- ClinGen CA1041041
- ClinVar RCV001641019
- ClinVar RCV001699827
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.05
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Benign (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available