S11G (p.Ser11Gly) variant of FOXP1 (Forkhead box protein P1)
S11G (p.Ser11Gly) 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 0.44 / 1. The record also includes population frequency data and structural context.
S11G (p.Ser11Gly) variant details
- p.Ser11Gly
- rs775317391
- ClinGen CA2491473
- ClinVar RCV001092350
- ExAC rs775317391
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available