M6L (p.Met6Leu) variant of GNA11 (P29992)
M6L (p.Met6Leu) in GNA11 (P29992) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
M6L (p.Met6Leu) variant details
- p.Met6Leu
- TOPMed rs1387105467
- gnomAD rs1387105467
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available