S65L (p.Ser65Leu) variant of SETBP1 (SET-binding protein)
S65L (p.Ser65Leu) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S65L (p.Ser65Leu) variant details
- p.Ser65Leu
- rs2511332776
- ClinGen CA402481633
- ClinVar RCV002462793
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available