A29T (p.Ala29Thr) variant of SETBP1 (SET-binding protein)
A29T (p.Ala29Thr) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs772172102
- ClinGen CA8945325
- cosmic curated COSV56332
- ClinVar RCV002122722
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 9.20
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available