G38D (p.Gly38Asp) variant of FOXP2 (Forkhead box protein P2)
G38D (p.Gly38Asp) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- rs760842249
- NCI-TCGA Cosmic COSV6349
- cosmic curated COSV63490
- ExAC rs760842249
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.34
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available