M7I (p.Met7Ile) variant of GNA11 (P29992)
M7I (p.Met7Ile) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
M7I (p.Met7Ile) variant details
- p.Met7Ile
- gnomAD 19-3094672-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.66
- CADD 24.50
- PolyPhen-2 0.15
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available