V30L (p.Val30Leu) variant of GNAT1 (P11488)
V30L (p.Val30Leu) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- ESP rs145040990
- ExAC rs145040990
- TOPMed rs145040990
- gnomAD rs145040990
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.74
- CADD 24.40
- PolyPhen-2 0.47
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available