V4M (p.Val4Met) variant of AKT1 (P31749)
V4M (p.Val4Met) 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 0.70 / 1. The record also includes population frequency data.
V4M (p.Val4Met) variant details
- p.Val4Met
- rs754031503
- ClinGen CA7374949
- ClinVar RCV000472618
- ExAC rs754031503
- Uncertain significance
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Cowden syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00021)