G13S (p.Gly13Ser) variant of FOXP1 (Forkhead box protein P1)
G13S (p.Gly13Ser) 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 0.53 / 1. The record also includes population frequency data and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- rs1202112901
- ClinGen CA353565258
- ClinVar RCV002591932
- TOPMed rs1202112901
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available