G30S (p.Gly30Ser) variant of FOXP1 (Forkhead box protein P1)
G30S (p.Gly30Ser) in FOXP1 (Forkhead box protein P1) 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 0.17 / 1. The record also includes population frequency data and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- rs913003790
- ClinGen CA77135954
- ClinVar RCV001318134
- TOPMed rs913003790
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 4.26
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available