T137A (p.Thr137Ala) variant of AKT3 (Q9Y243)
T137A (p.Thr137Ala) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T137A (p.Thr137Ala) variant details
- p.Thr137Ala
- rs1351256745
- ClinGen CA345670529
- ClinVar RCV001999557
- ClinVar RCV004982839
- Conflicting interpretations
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; Inborn genet
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- MetaLR 0.05
- MetaSVM -1.08
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)