S13G (p.Ser13Gly) variant of FOXP2 (Forkhead box protein P2)
S13G (p.Ser13Gly) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S13G (p.Ser13Gly) variant details
- p.Ser13Gly
- ExAC rs750736305
- TOPMed rs750736305
- gnomAD rs750736305
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.13
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.54
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available