P49L (p.Pro49Leu) variant of SETBP1 (SET-binding protein)
P49L (p.Pro49Leu) 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 0.60 / 1. The record also includes population frequency data and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- rs764706604
- ClinGen CA8945335
- cosmic curated COSV56320
- ClinVar RCV002042435
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available