R75K (p.Arg75Lys) variant of AKT3 (Q9Y243)
R75K (p.Arg75Lys) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature.
R75K (p.Arg75Lys) variant details
- p.Arg75Lys
- rs1553428545
- ClinGen CA345669292
- ClinVar RCV000533230
- Ensembl rs1553428545
- Uncertain significance
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.96
- MetaLR 0.29
- MetaSVM -0.75
- PolyPhen-2 0.96
- SIFT 0.08
- MutPred 0.67
- ClinVar: Uncertain significance (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: MPPH Syndrome. (PMID 27854409)