V4L (p.Val4Leu) variant of AKT1 (P31749)
V4L (p.Val4Leu) in AKT1 (P31749) 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 0.70 / 1. The record also includes population frequency data.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- NCI-TCGA Cosmic COSV6257
- cosmic curated COSV62574
- ExAC rs754031503
- TOPMed rs754031503
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)