N72S (p.Asn72Ser) variant of SETBP1 (SET-binding protein)
N72S (p.Asn72Ser) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar 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.
N72S (p.Asn72Ser) variant details
- p.Asn72Ser
- cosmic curated COSV99951
- TOPMed rs1015494029
- gnomAD rs1015494029
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available