K107Q (p.Lys107Gln) variant of GNAQ (P50148)
K107Q (p.Lys107Gln) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K107Q (p.Lys107Gln) variant details
- p.Lys107Gln
- ExAC rs762200216
- gnomAD rs762200216
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.37
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available