M105T (p.Met105Thr) variant of AKT2 (P31751)
M105T (p.Met105Thr) in AKT2 (P31751) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M105T (p.Met105Thr) variant details
- p.Met105Thr
- ExAC rs762920486
- gnomAD rs762920486
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.20
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available