M100L (p.Met100Leu) variant of AKT2 (P31751)
M100L (p.Met100Leu) in AKT2 (P31751) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M100L (p.Met100Leu) variant details
- p.Met100Leu
- ESP rs369128708
- ExAC rs369128708
- TOPMed rs369128708
- gnomAD rs369128708
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.20
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available