S13N (p.Ser13Asn) variant of FOXP2 (Forkhead box protein P2)
S13N (p.Ser13Asn) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S13N (p.Ser13Asn) variant details
- p.Ser13Asn
- ExAC rs756555227
- gnomAD rs756555227
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.12
- CADD 24.50
- PolyPhen-2 0.68
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available