V183D (p.Val183Asp) variant of AKT3 (Q9Y243)
V183D (p.Val183Asp) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature.
V183D (p.Val183Asp) variant details
- p.Val183Asp
- rs886041100
- ClinGen CA10602705
- cosmic curated COSV10723
- ClinVar RCV000258932
- Likely pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.98
- MetaLR 0.24
- MetaSVM -0.47
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.43
- ClinVar: Likely pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: MPPH Syndrome. (PMID 27854409)