K72R (p.Lys72Arg) variant of GNAQ (P50148)
K72R (p.Lys72Arg) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K72R (p.Lys72Arg) variant details
- p.Lys72Arg
- Ensembl rs1829010465
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.28
- MetaLR 0.43
- MetaSVM -0.40
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available