V30M (p.Val30Met) variant of GNAT1 (P11488)
V30M (p.Val30Met) in GNAT1 (P11488) 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 0.83 / 1. The record also includes population frequency data and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs145040990
- ClinGen CA2412436
- cosmic curated COSV10452
- ClinVar RCV001878192
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.85
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available