P100R (p.Pro100Arg) variant of GNAQ (P50148)
P100R (p.Pro100Arg) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P100R (p.Pro100Arg) variant details
- p.Pro100Arg
- ExAC rs766649624
- gnomAD rs766649624
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.54
- MetaLR 0.70
- MetaSVM 0.19
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available