M6I (p.Met6Ile) variant of GNA11 (P29992)
M6I (p.Met6Ile) in GNA11 (P29992) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M6I (p.Met6Ile) variant details
- p.Met6Ile
- Ensembl rs1913317498
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.27
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available