P14H (p.Pro14His) variant of FOXG1 (Forkhead box protein G1)
P14H (p.Pro14His) in FOXG1 (Forkhead box protein G1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P14H (p.Pro14His) variant details
- p.Pro14His
- gnomAD 14-28767320-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -0.89
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available