N71T (p.Asn71Thr) variant of AKT2 (P31751)
N71T (p.Asn71Thr) in AKT2 (P31751) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
N71T (p.Asn71Thr) variant details
- p.Asn71Thr
- 1000Genomes rs200272953
- ESP rs200272953
- ExAC rs200272953
- TOPMed rs200272953
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.64
- CADD 22.90
- PolyPhen-2 0.34
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available