I6V (p.Ile6Val) variant of AKT3 (Q9Y243)
I6V (p.Ile6Val) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; Inborn genet. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- rs750279631
- ClinGen CA1484212
- ClinVar RCV001691443
- ClinVar RCV001882769
- Conflicting interpretations
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; Inborn genet
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- MetaLR 0.17
- MetaSVM -0.94
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.86
- ClinVar: Conflicting classifications of pathogenicity (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00027)
- 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)