M6V (p.Met6Val) variant of GNA11 (P29992)
M6V (p.Met6Val) in GNA11 (P29992) is a missense change. Clinical records from ClinVar, EBI, 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 0.39 / 1. The record also includes population frequency data and structural context.
M6V (p.Met6Val) variant details
- p.Met6Val
- rs1387105467
- ClinGen CA403299045
- ClinVar RCV003055757
- TOPMed rs1387105467
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.29
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available