F125I (p.Phe125Ile) variant of GNA13 (Q14344)
F125I (p.Phe125Ile) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
F125I (p.Phe125Ile) variant details
- p.Phe125Ile
- gnomAD 17-65053639-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.45
- MetaLR 0.42
- MetaSVM -0.51
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available