P42L (p.Pro42Leu) variant of AKT1 (P31749)
P42L (p.Pro42Leu) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cowden syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs1892951094
- ClinGen CA391221552
- ClinVar RCV002949467
- TOPMed rs1892951094
- Uncertain significance
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 25.10
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Uncertain significance (Cowden syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available