K41M (p.Lys41Met) variant of GNAQ (P50148)
K41M (p.Lys41Met) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
K41M (p.Lys41Met) variant details
- p.Lys41Met
- Ensembl rs2118632143
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.64
- MetaLR 0.75
- MetaSVM 0.43
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available