V44G (p.Val44Gly) variant of FOXP2 (Forkhead box protein P2)
V44G (p.Val44Gly) in FOXP2 (Forkhead box protein P2) 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 0.52 / 1. The record also includes population frequency data and structural context.
V44G (p.Val44Gly) variant details
- p.Val44Gly
- gnomAD rs1283187808
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.42
- CADD 26.50
- PolyPhen-2 0.88
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available