R108S (p.Arg108Ser) variant of AKT3 (Q9Y243)
R108S (p.Arg108Ser) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
R108S (p.Arg108Ser) variant details
- p.Arg108Ser
- TOPMed rs1384888633
- gnomAD rs1384888633
- Conflicting interpretations
- Inborn genetic diseases; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- MetaLR 0.04
- MetaSVM -1.05
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Megalencephaly-polymicrogyria-polydacty)
- UniProt: Conflicting interpretations
- Most common in the African/African-American population (allele frequency 2.4e-05)