A7T (p.Ala7Thr) variant of GNAI1 (P63096)
A7T (p.Ala7Thr) in GNAI1 (P63096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of 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.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs773988706
- ClinGen CA4314405
- ClinVar RCV003258370
- ExAC rs773988706
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)