V113I (p.Val113Ile) variant of GNAQ (P50148)
V113I (p.Val113Ile) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V113I (p.Val113Ile) variant details
- p.Val113Ile
- TOPMed rs1430429958
- gnomAD rs1430429958
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.40
- MetaLR 0.29
- MetaSVM -0.59
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available