N38D (p.Asn38Asp) variant of FOXP1 (Forkhead box protein P1)
N38D (p.Asn38Asp) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
N38D (p.Asn38Asp) variant details
- p.Asn38Asp
- gnomAD rs2063423709
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 27.00
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available