P50T (p.Pro50Thr) variant of AKT2 (P31751)
P50T (p.Pro50Thr) in AKT2 (P31751) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P50T (p.Pro50Thr) variant details
- p.Pro50Thr
- 1000Genomes rs184042322
- ExAC rs184042322
- TOPMed rs184042322
- gnomAD rs184042322
- Benign
- Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.11
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.43
- ClinVar: Benign (Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body)
- UniProt: Benign
- Most common in the 1KG:FIN population (allele frequency 0.02)
- Structural context available