P100L (p.Pro100Leu) variant of GNAQ (P50148)
P100L (p.Pro100Leu) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P100L (p.Pro100Leu) variant details
- p.Pro100Leu
- ExAC rs766649624
- gnomAD rs766649624
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.35
- MetaLR 0.66
- MetaSVM 0.03
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available