S23P (p.Ser23Pro) variant of SETBP1 (SET-binding protein)
S23P (p.Ser23Pro) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- rs2144195665
- ClinGen CA402481370
- ClinVar RCV001974918
- Ensembl rs2144195665
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.01
- SIFT 0.12
- MutPred 0.06
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Structural context available