M55V (p.Met55Val) variant of SETBP1 (SET-binding protein)
M55V (p.Met55Val) 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 0.56 / 1. The record also includes population frequency data and structural context.
M55V (p.Met55Val) variant details
- p.Met55Val
- rs2511332508
- ClinGen CA402481557
- ClinVar RCV002800171
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available