A34V (p.Ala34Val) variant of SETBP1 (SET-binding protein)
A34V (p.Ala34Val) 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 0.48 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs2511331980
- ClinGen CA402481440
- ClinVar RCV002663207
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available