P57L (p.Pro57Leu) variant of SETBP1 (SET-binding protein)
P57L (p.Pro57Leu) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1.
P57L (p.Pro57Leu) variant details
- p.Pro57Leu
- rs1271534518
- ClinGen CA402481576
- cosmic curated COSV10940
- ClinVar RCV002736238
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.13
- MetaLR 0.40
- MetaSVM -0.35
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.25
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign