N12D (p.Asn12Asp) variant of FOXP1 (Forkhead box protein P1)
N12D (p.Asn12Asp) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
N12D (p.Asn12Asp) variant details
- p.Asn12Asp
- Ensembl rs2108382372
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 27.10
- PolyPhen-2 0.90
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available