S2R (p.Ser2Arg) variant of AKT1 (P31749)
S2R (p.Ser2Arg) in AKT1 (P31749) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- ESP rs371534192
- ExAC rs371534192
- TOPMed rs371534192
- gnomAD rs371534192
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 17.00
- PolyPhen-2 0.10
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)