V13L (p.Val13Leu) variant of GNAI1 (P63096)
V13L (p.Val13Leu) in GNAI1 (P63096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs1433259734
- ClinGen CA368010771
- ClinVar RCV002280509
- ClinVar RCV005574924
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)