S120N (p.Ser120Asn) variant of AKT3 (Q9Y243)
S120N (p.Ser120Asn) 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 0.31 / 1. The record also includes published literature.
S120N (p.Ser120Asn) variant details
- p.Ser120Asn
- rs2147846281
- ClinGen CA345670644
- ClinVar RCV003002453
- Uncertain significance
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.09
- PolyPhen-2 0.01
- SIFT 0.18
- MutPred 0.17
- ClinVar: Uncertain significance (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: MPPH Syndrome. (PMID 27854409)