V13M (p.Val13Met) variant of GNAI1 (P63096)
V13M (p.Val13Met) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V13M (p.Val13Met) variant details
- p.Val13Met
- gnomAD 7-80135197-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- MetaLR 0.54
- MetaSVM -0.17
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available