G22S (p.Gly22Ser) variant of FOXP1 (Forkhead box protein P1)
G22S (p.Gly22Ser) 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 0.08 / 1. The record also includes population frequency data and structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- rs794727811
- ClinGen CA246831
- cosmic curated COSV59523
- ClinVar RCV000179547
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0758
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available