P14L (p.Pro14Leu) variant of FOXG1 (Forkhead box protein G1)
P14L (p.Pro14Leu) in FOXG1 (Forkhead box protein G1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- gnomAD 14-28767320-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.13
- MetaLR 0.09
- MetaSVM -1.00
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available