A135V (p.Ala135Val) variant of AKT3 (Q9Y243)
A135V (p.Ala135Val) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A135V (p.Ala135Val) variant details
- p.Ala135Val
- rs2147846090
- Ensembl rs2147846090
- ClinGen CA345670537
- ClinVar RCV003055180
- Uncertain significance
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- MetaLR 0.04
- MetaSVM -1.05
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)