D3A (p.Asp3Ala) variant of FOXG1 (Forkhead box protein G1)
D3A (p.Asp3Ala) in FOXG1 (Forkhead box protein G1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D3A (p.Asp3Ala) variant details
- p.Asp3Ala
- ExAC rs761420014
- gnomAD rs761420014
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.51
- CADD 23.30
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available